SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88610867G>C , CM000676.2:g.88610867G>C | GRCh38 |
| NC_000014.8:g.89077211G>C , CM000676.1:g.89077211G>C | GRCh37 |
| NC_000014.7:g.88146964G>C | NCBI36 |
| NG_050601.1:g.52959G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2131G>C MANE Select | ENSP00000251038.5:p.Asp711His | |
| ENST00000649731.1:c.*1339G>C | ENSP00000497757.1:n.*1339G>C | |
| ENST00000251038.9:c.2131G>C | ENSP00000251038.5:p.Asp711His | |
| ENST00000302216.12:c.1660G>C | ENSP00000307025.8:p.Asp554His | |
| ENST00000318308.10:c.841G>C | ENSP00000327176.6:p.Asp281His | |
| ENST00000336693.8:c.1636G>C | ENSP00000338002.4:p.Asp546His | |
| ENST00000393514.9:c.2056G>C | ENSP00000377150.5:p.Asp686His | |
| ENST00000406216.7:c.769G>C | ENSP00000384682.3:p.Asp257His | |
| ENST00000554020.5:n.974G>C | ||
| ENST00000555755.5:c.2113G>C | ENSP00000452475.1:p.Asp705His | |
| ENST00000555792.1:c.376G>C | ENSP00000450823.1:p.Asp126His | |
| ENST00000555851.6:n.290G>C | ||
| ENST00000555900.5:c.1237G>C | ENSP00000451530.1:p.Asp413His | |
| ENST00000556000.5:c.1875G>C | ||
| ENST00000556945.5:c.1738G>C | ENSP00000450474.1:p.Asp580His | |
| ENST00000557491.1:n.1416G>C | ||
| ENST00000557607.5:c.1183G>C | ENSP00000452370.1:p.Asp395His | |
| NM_001160103.1:c.2128G>C | NP_001153575.1:p.Asp710His | |
| NM_001160104.1:c.2113G>C | NP_001153576.1:p.Asp705His | |
| NM_024824.4:c.2131G>C | NP_079100.2:p.Asp711His | |
| NM_207660.3:c.1660G>C | NP_997543.1:p.Asp554His | |
| NM_207661.2:c.1636G>C | NP_997544.1:p.Asp546His | |
| NM_207662.3:c.841G>C | NP_997545.2:p.Asp281His | |
| XM_005268067.3:c.2116G>C | XP_005268124.1:p.Asp706His | |
| XM_005268068.3:c.2056G>C | XP_005268125.1:p.Asp686His | |
| XM_005268069.3:c.1738G>C | XP_005268126.1:p.Asp580His | |
| XM_005268070.3:c.1735G>C | XP_005268127.1:p.Asp579His | |
| XM_005268071.3:c.1663G>C | XP_005268128.1:p.Asp555His | |
| XM_005268073.3:c.1237G>C | XP_005268130.1:p.Asp413His | |
| XM_006720257.2:c.1162G>C | XP_006720320.1:p.Asp388His | |
| XM_011537160.1:c.2029G>C | XP_011535462.1:p.Asp677His | |
| XM_011537161.1:c.1975G>C | XP_011535463.1:p.Asp659His | |
| NM_001326295.1:c.1738G>C | NP_001313224.1:p.Asp580His | |
| NM_001326296.1:c.2053G>C | NP_001313225.1:p.Asp685His | |
| NM_001326297.1:c.2029G>C | NP_001313226.1:p.Asp677His | |
| NM_001326298.1:c.1663G>C | NP_001313227.1:p.Asp555His | |
| NM_001326299.1:c.2038G>C | NP_001313228.1:p.Asp680His | |
| NM_001326300.1:c.1666G>C | NP_001313229.1:p.Asp556His | |
| NM_001326301.1:c.1954G>C | NP_001313230.1:p.Asp652His | |
| NM_001326302.1:c.1663G>C | NP_001313231.1:p.Asp555His | |
| NM_001326303.1:c.1558G>C | NP_001313232.1:p.Asp520His | |
| NM_001326304.1:c.1270G>C | NP_001313233.1:p.Asp424His | |
| NM_001326305.1:c.1591G>C | NP_001313234.1:p.Asp531His | |
| NM_001326306.1:c.1504G>C | NP_001313235.1:p.Asp502His | |
| NM_001326307.1:c.2056G>C | NP_001313236.1:p.Asp686His | |
| NM_001326308.1:c.1273G>C | NP_001313237.1:p.Asp425His | |
| NM_001326309.1:c.1198G>C | NP_001313238.1:p.Asp400His | |
| NM_001326310.1:c.2116G>C | NP_001313239.1:p.Asp706His | |
| NM_001326311.1:c.1195G>C | NP_001313240.1:p.Asp399His | |
| NM_001326312.1:c.2041G>C | NP_001313241.1:p.Asp681His | |
| NM_001326313.1:c.1507G>C | NP_001313242.1:p.Asp503His | |
| NM_001326314.1:c.1588G>C | NP_001313243.1:p.Asp530His | |
| NM_001326315.1:c.2026G>C | NP_001313244.1:p.Asp676His | |
| NM_001326316.1:c.2026G>C | NP_001313245.1:p.Asp676His | |
| NR_136936.1:n.2196G>C | ||
| XM_005268070.5:c.1735G>C | XP_005268127.1:p.Asp579His | |
| XM_005268073.4:c.1237G>C | XP_005268130.1:p.Asp413His | |
| XM_006720257.3:c.1162G>C | XP_006720320.1:p.Asp388His | |
| XM_011537161.3:c.1975G>C | XP_011535463.1:p.Asp659His | |
| XM_024449713.1:c.1159G>C | XP_024305481.1:p.Asp387His | |
| NM_024824.5:c.2131G>C MANE Select | NP_079100.2:p.Asp711His | |
| NM_001160103.2:c.2128G>C | NP_001153575.1:p.Asp710His | |
| NM_001160104.2:c.2113G>C | NP_001153576.1:p.Asp705His | |
| NM_001326295.2:c.1738G>C | NP_001313224.1:p.Asp580His | |
| NM_001326296.2:c.2053G>C | NP_001313225.1:p.Asp685His | |
| NM_001326297.2:c.2029G>C | NP_001313226.1:p.Asp677His | |
| NM_001326298.2:c.1663G>C | NP_001313227.1:p.Asp555His | |
| NM_001326299.2:c.2038G>C | NP_001313228.1:p.Asp680His | |
| NM_001326300.2:c.1666G>C | NP_001313229.1:p.Asp556His | |
| NM_001326301.2:c.1954G>C | NP_001313230.1:p.Asp652His | |
| NM_001326302.2:c.1663G>C | NP_001313231.1:p.Asp555His | |
| NM_001326303.2:c.1558G>C | NP_001313232.1:p.Asp520His | |
| NM_001326304.2:c.1270G>C | NP_001313233.1:p.Asp424His | |
| NM_001326305.2:c.1591G>C | NP_001313234.1:p.Asp531His | |
| NM_001326306.2:c.1504G>C | NP_001313235.1:p.Asp502His | |
| NM_001326307.2:c.2056G>C | NP_001313236.1:p.Asp686His | |
| NM_001326308.2:c.1273G>C | NP_001313237.1:p.Asp425His | |
| NM_001326309.2:c.1198G>C | NP_001313238.1:p.Asp400His | |
| NM_001326310.2:c.2116G>C | NP_001313239.1:p.Asp706His | |
| NM_001326311.2:c.1195G>C | NP_001313240.1:p.Asp399His | |
| NM_001326312.2:c.2041G>C | NP_001313241.1:p.Asp681His | |
| NM_001326313.2:c.1507G>C | NP_001313242.1:p.Asp503His | |
| NM_001326314.2:c.1588G>C | NP_001313243.1:p.Asp530His | |
| NM_001326315.2:c.2026G>C | NP_001313244.1:p.Asp676His | |
| NM_207660.4:c.1660G>C | NP_997543.1:p.Asp554His | |
| NM_207662.4:c.841G>C | NP_997545.2:p.Asp281His | |
| NR_136936.2:n.2068G>C | ||
| NM_001326316.2:c.2026G>C | NP_001313245.1:p.Asp676His | |
| NM_207661.3:c.1636G>C | NP_997544.1:p.Asp546His |