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.88610873A>C , CM000676.2:g.88610873A>C | GRCh38 |
| NC_000014.8:g.89077217A>C , CM000676.1:g.89077217A>C | GRCh37 |
| NC_000014.7:g.88146970A>C | NCBI36 |
| NG_050601.1:g.52965A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2137A>C MANE Select | ENSP00000251038.5:p.Thr713Pro | |
| ENST00000649731.1:c.*1345A>C | ENSP00000497757.1:n.*1345A>C | |
| ENST00000251038.9:c.2137A>C | ENSP00000251038.5:p.Thr713Pro | |
| ENST00000302216.12:c.1666A>C | ENSP00000307025.8:p.Thr556Pro | |
| ENST00000318308.10:c.847A>C | ENSP00000327176.6:p.Thr283Pro | |
| ENST00000336693.8:c.1642A>C | ENSP00000338002.4:p.Thr548Pro | |
| ENST00000393514.9:c.2062A>C | ENSP00000377150.5:p.Thr688Pro | |
| ENST00000406216.7:c.775A>C | ENSP00000384682.3:p.Thr259Pro | |
| ENST00000554020.5:n.980A>C | ||
| ENST00000555755.5:c.2119A>C | ENSP00000452475.1:p.Thr707Pro | |
| ENST00000555792.1:c.382A>C | ENSP00000450823.1:p.Thr128Pro | |
| ENST00000555851.6:n.296A>C | ||
| ENST00000555900.5:c.1243A>C | ENSP00000451530.1:p.Thr415Pro | |
| ENST00000556000.5:c.1881A>C | ||
| ENST00000556945.5:c.1744A>C | ENSP00000450474.1:p.Thr582Pro | |
| ENST00000557491.1:n.1422A>C | ||
| ENST00000557607.5:c.1189A>C | ENSP00000452370.1:p.Thr397Pro | |
| NM_001160103.1:c.2134A>C | NP_001153575.1:p.Thr712Pro | |
| NM_001160104.1:c.2119A>C | NP_001153576.1:p.Thr707Pro | |
| NM_024824.4:c.2137A>C | NP_079100.2:p.Thr713Pro | |
| NM_207660.3:c.1666A>C | NP_997543.1:p.Thr556Pro | |
| NM_207661.2:c.1642A>C | NP_997544.1:p.Thr548Pro | |
| NM_207662.3:c.847A>C | NP_997545.2:p.Thr283Pro | |
| XM_005268067.3:c.2122A>C | XP_005268124.1:p.Thr708Pro | |
| XM_005268068.3:c.2062A>C | XP_005268125.1:p.Thr688Pro | |
| XM_005268069.3:c.1744A>C | XP_005268126.1:p.Thr582Pro | |
| XM_005268070.3:c.1741A>C | XP_005268127.1:p.Thr581Pro | |
| XM_005268071.3:c.1669A>C | XP_005268128.1:p.Thr557Pro | |
| XM_005268073.3:c.1243A>C | XP_005268130.1:p.Thr415Pro | |
| XM_006720257.2:c.1168A>C | XP_006720320.1:p.Thr390Pro | |
| XM_011537160.1:c.2035A>C | XP_011535462.1:p.Thr679Pro | |
| XM_011537161.1:c.1981A>C | XP_011535463.1:p.Thr661Pro | |
| NM_001326295.1:c.1744A>C | NP_001313224.1:p.Thr582Pro | |
| NM_001326296.1:c.2059A>C | NP_001313225.1:p.Thr687Pro | |
| NM_001326297.1:c.2035A>C | NP_001313226.1:p.Thr679Pro | |
| NM_001326298.1:c.1669A>C | NP_001313227.1:p.Thr557Pro | |
| NM_001326299.1:c.2044A>C | NP_001313228.1:p.Thr682Pro | |
| NM_001326300.1:c.1672A>C | NP_001313229.1:p.Thr558Pro | |
| NM_001326301.1:c.1960A>C | NP_001313230.1:p.Thr654Pro | |
| NM_001326302.1:c.1669A>C | NP_001313231.1:p.Thr557Pro | |
| NM_001326303.1:c.1564A>C | NP_001313232.1:p.Thr522Pro | |
| NM_001326304.1:c.1276A>C | NP_001313233.1:p.Thr426Pro | |
| NM_001326305.1:c.1597A>C | NP_001313234.1:p.Thr533Pro | |
| NM_001326306.1:c.1510A>C | NP_001313235.1:p.Thr504Pro | |
| NM_001326307.1:c.2062A>C | NP_001313236.1:p.Thr688Pro | |
| NM_001326308.1:c.1279A>C | NP_001313237.1:p.Thr427Pro | |
| NM_001326309.1:c.1204A>C | NP_001313238.1:p.Thr402Pro | |
| NM_001326310.1:c.2122A>C | NP_001313239.1:p.Thr708Pro | |
| NM_001326311.1:c.1201A>C | NP_001313240.1:p.Thr401Pro | |
| NM_001326312.1:c.2047A>C | NP_001313241.1:p.Thr683Pro | |
| NM_001326313.1:c.1513A>C | NP_001313242.1:p.Thr505Pro | |
| NM_001326314.1:c.1594A>C | NP_001313243.1:p.Thr532Pro | |
| NM_001326315.1:c.2032A>C | NP_001313244.1:p.Thr678Pro | |
| NM_001326316.1:c.2032A>C | NP_001313245.1:p.Thr678Pro | |
| NR_136936.1:n.2202A>C | ||
| XM_005268070.5:c.1741A>C | XP_005268127.1:p.Thr581Pro | |
| XM_005268073.4:c.1243A>C | XP_005268130.1:p.Thr415Pro | |
| XM_006720257.3:c.1168A>C | XP_006720320.1:p.Thr390Pro | |
| XM_011537161.3:c.1981A>C | XP_011535463.1:p.Thr661Pro | |
| XM_024449713.1:c.1165A>C | XP_024305481.1:p.Thr389Pro | |
| NM_024824.5:c.2137A>C MANE Select | NP_079100.2:p.Thr713Pro | |
| NM_001160103.2:c.2134A>C | NP_001153575.1:p.Thr712Pro | |
| NM_001160104.2:c.2119A>C | NP_001153576.1:p.Thr707Pro | |
| NM_001326295.2:c.1744A>C | NP_001313224.1:p.Thr582Pro | |
| NM_001326296.2:c.2059A>C | NP_001313225.1:p.Thr687Pro | |
| NM_001326297.2:c.2035A>C | NP_001313226.1:p.Thr679Pro | |
| NM_001326298.2:c.1669A>C | NP_001313227.1:p.Thr557Pro | |
| NM_001326299.2:c.2044A>C | NP_001313228.1:p.Thr682Pro | |
| NM_001326300.2:c.1672A>C | NP_001313229.1:p.Thr558Pro | |
| NM_001326301.2:c.1960A>C | NP_001313230.1:p.Thr654Pro | |
| NM_001326302.2:c.1669A>C | NP_001313231.1:p.Thr557Pro | |
| NM_001326303.2:c.1564A>C | NP_001313232.1:p.Thr522Pro | |
| NM_001326304.2:c.1276A>C | NP_001313233.1:p.Thr426Pro | |
| NM_001326305.2:c.1597A>C | NP_001313234.1:p.Thr533Pro | |
| NM_001326306.2:c.1510A>C | NP_001313235.1:p.Thr504Pro | |
| NM_001326307.2:c.2062A>C | NP_001313236.1:p.Thr688Pro | |
| NM_001326308.2:c.1279A>C | NP_001313237.1:p.Thr427Pro | |
| NM_001326309.2:c.1204A>C | NP_001313238.1:p.Thr402Pro | |
| NM_001326310.2:c.2122A>C | NP_001313239.1:p.Thr708Pro | |
| NM_001326311.2:c.1201A>C | NP_001313240.1:p.Thr401Pro | |
| NM_001326312.2:c.2047A>C | NP_001313241.1:p.Thr683Pro | |
| NM_001326313.2:c.1513A>C | NP_001313242.1:p.Thr505Pro | |
| NM_001326314.2:c.1594A>C | NP_001313243.1:p.Thr532Pro | |
| NM_001326315.2:c.2032A>C | NP_001313244.1:p.Thr678Pro | |
| NM_207660.4:c.1666A>C | NP_997543.1:p.Thr556Pro | |
| NM_207662.4:c.847A>C | NP_997545.2:p.Thr283Pro | |
| NR_136936.2:n.2074A>C | ||
| NM_001326316.2:c.2032A>C | NP_001313245.1:p.Thr678Pro | |
| NM_207661.3:c.1642A>C | NP_997544.1:p.Thr548Pro |