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.88610862G>A , CM000676.2:g.88610862G>A | GRCh38 |
| NC_000014.8:g.89077206G>A , CM000676.1:g.89077206G>A | GRCh37 |
| NC_000014.7:g.88146959G>A | NCBI36 |
| NG_050601.1:g.52954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2126G>A MANE Select | ENSP00000251038.5:p.Arg709Lys | |
| ENST00000649731.1:c.*1334G>A | ENSP00000497757.1:n.*1334G>A | |
| ENST00000251038.9:c.2126G>A | ENSP00000251038.5:p.Arg709Lys | |
| ENST00000302216.12:c.1655G>A | ENSP00000307025.8:p.Arg552Lys | |
| ENST00000318308.10:c.836G>A | ENSP00000327176.6:p.Arg279Lys | |
| ENST00000336693.8:c.1631G>A | ENSP00000338002.4:p.Arg544Lys | |
| ENST00000393514.9:c.2051G>A | ENSP00000377150.5:p.Arg684Lys | |
| ENST00000406216.7:c.764G>A | ENSP00000384682.3:p.Arg255Lys | |
| ENST00000554020.5:n.969G>A | ||
| ENST00000555755.5:c.2108G>A | ENSP00000452475.1:p.Arg703Lys | |
| ENST00000555792.1:c.371G>A | ENSP00000450823.1:p.Arg124Lys | |
| ENST00000555851.6:n.285G>A | ||
| ENST00000555900.5:c.1232G>A | ENSP00000451530.1:p.Arg411Lys | |
| ENST00000556000.5:c.1870G>A | ||
| ENST00000556945.5:c.1733G>A | ENSP00000450474.1:p.Arg578Lys | |
| ENST00000557491.1:n.1411G>A | ||
| ENST00000557607.5:c.1178G>A | ENSP00000452370.1:p.Arg393Lys | |
| NM_001160103.1:c.2123G>A | NP_001153575.1:p.Arg708Lys | |
| NM_001160104.1:c.2108G>A | NP_001153576.1:p.Arg703Lys | |
| NM_024824.4:c.2126G>A | NP_079100.2:p.Arg709Lys | |
| NM_207660.3:c.1655G>A | NP_997543.1:p.Arg552Lys | |
| NM_207661.2:c.1631G>A | NP_997544.1:p.Arg544Lys | |
| NM_207662.3:c.836G>A | NP_997545.2:p.Arg279Lys | |
| XM_005268067.3:c.2111G>A | XP_005268124.1:p.Arg704Lys | |
| XM_005268068.3:c.2051G>A | XP_005268125.1:p.Arg684Lys | |
| XM_005268069.3:c.1733G>A | XP_005268126.1:p.Arg578Lys | |
| XM_005268070.3:c.1730G>A | XP_005268127.1:p.Arg577Lys | |
| XM_005268071.3:c.1658G>A | XP_005268128.1:p.Arg553Lys | |
| XM_005268073.3:c.1232G>A | XP_005268130.1:p.Arg411Lys | |
| XM_006720257.2:c.1157G>A | XP_006720320.1:p.Arg386Lys | |
| XM_011537160.1:c.2024G>A | XP_011535462.1:p.Arg675Lys | |
| XM_011537161.1:c.1970G>A | XP_011535463.1:p.Arg657Lys | |
| NM_001326295.1:c.1733G>A | NP_001313224.1:p.Arg578Lys | |
| NM_001326296.1:c.2048G>A | NP_001313225.1:p.Arg683Lys | |
| NM_001326297.1:c.2024G>A | NP_001313226.1:p.Arg675Lys | |
| NM_001326298.1:c.1658G>A | NP_001313227.1:p.Arg553Lys | |
| NM_001326299.1:c.2033G>A | NP_001313228.1:p.Arg678Lys | |
| NM_001326300.1:c.1661G>A | NP_001313229.1:p.Arg554Lys | |
| NM_001326301.1:c.1949G>A | NP_001313230.1:p.Arg650Lys | |
| NM_001326302.1:c.1658G>A | NP_001313231.1:p.Arg553Lys | |
| NM_001326303.1:c.1553G>A | NP_001313232.1:p.Arg518Lys | |
| NM_001326304.1:c.1265G>A | NP_001313233.1:p.Arg422Lys | |
| NM_001326305.1:c.1586G>A | NP_001313234.1:p.Arg529Lys | |
| NM_001326306.1:c.1499G>A | NP_001313235.1:p.Arg500Lys | |
| NM_001326307.1:c.2051G>A | NP_001313236.1:p.Arg684Lys | |
| NM_001326308.1:c.1268G>A | NP_001313237.1:p.Arg423Lys | |
| NM_001326309.1:c.1193G>A | NP_001313238.1:p.Arg398Lys | |
| NM_001326310.1:c.2111G>A | NP_001313239.1:p.Arg704Lys | |
| NM_001326311.1:c.1190G>A | NP_001313240.1:p.Arg397Lys | |
| NM_001326312.1:c.2036G>A | NP_001313241.1:p.Arg679Lys | |
| NM_001326313.1:c.1502G>A | NP_001313242.1:p.Arg501Lys | |
| NM_001326314.1:c.1583G>A | NP_001313243.1:p.Arg528Lys | |
| NM_001326315.1:c.2021G>A | NP_001313244.1:p.Arg674Lys | |
| NM_001326316.1:c.2021G>A | NP_001313245.1:p.Arg674Lys | |
| NR_136936.1:n.2191G>A | ||
| XM_005268070.5:c.1730G>A | XP_005268127.1:p.Arg577Lys | |
| XM_005268073.4:c.1232G>A | XP_005268130.1:p.Arg411Lys | |
| XM_006720257.3:c.1157G>A | XP_006720320.1:p.Arg386Lys | |
| XM_011537161.3:c.1970G>A | XP_011535463.1:p.Arg657Lys | |
| XM_024449713.1:c.1154G>A | XP_024305481.1:p.Arg385Lys | |
| NM_024824.5:c.2126G>A MANE Select | NP_079100.2:p.Arg709Lys | |
| NM_001160103.2:c.2123G>A | NP_001153575.1:p.Arg708Lys | |
| NM_001160104.2:c.2108G>A | NP_001153576.1:p.Arg703Lys | |
| NM_001326295.2:c.1733G>A | NP_001313224.1:p.Arg578Lys | |
| NM_001326296.2:c.2048G>A | NP_001313225.1:p.Arg683Lys | |
| NM_001326297.2:c.2024G>A | NP_001313226.1:p.Arg675Lys | |
| NM_001326298.2:c.1658G>A | NP_001313227.1:p.Arg553Lys | |
| NM_001326299.2:c.2033G>A | NP_001313228.1:p.Arg678Lys | |
| NM_001326300.2:c.1661G>A | NP_001313229.1:p.Arg554Lys | |
| NM_001326301.2:c.1949G>A | NP_001313230.1:p.Arg650Lys | |
| NM_001326302.2:c.1658G>A | NP_001313231.1:p.Arg553Lys | |
| NM_001326303.2:c.1553G>A | NP_001313232.1:p.Arg518Lys | |
| NM_001326304.2:c.1265G>A | NP_001313233.1:p.Arg422Lys | |
| NM_001326305.2:c.1586G>A | NP_001313234.1:p.Arg529Lys | |
| NM_001326306.2:c.1499G>A | NP_001313235.1:p.Arg500Lys | |
| NM_001326307.2:c.2051G>A | NP_001313236.1:p.Arg684Lys | |
| NM_001326308.2:c.1268G>A | NP_001313237.1:p.Arg423Lys | |
| NM_001326309.2:c.1193G>A | NP_001313238.1:p.Arg398Lys | |
| NM_001326310.2:c.2111G>A | NP_001313239.1:p.Arg704Lys | |
| NM_001326311.2:c.1190G>A | NP_001313240.1:p.Arg397Lys | |
| NM_001326312.2:c.2036G>A | NP_001313241.1:p.Arg679Lys | |
| NM_001326313.2:c.1502G>A | NP_001313242.1:p.Arg501Lys | |
| NM_001326314.2:c.1583G>A | NP_001313243.1:p.Arg528Lys | |
| NM_001326315.2:c.2021G>A | NP_001313244.1:p.Arg674Lys | |
| NM_207660.4:c.1655G>A | NP_997543.1:p.Arg552Lys | |
| NM_207662.4:c.836G>A | NP_997545.2:p.Arg279Lys | |
| NR_136936.2:n.2063G>A | ||
| NM_001326316.2:c.2021G>A | NP_001313245.1:p.Arg674Lys | |
| NM_207661.3:c.1631G>A | NP_997544.1:p.Arg544Lys |