Linked Data
ClinVar Variation Id:
217562
ClinVar RCV Id:
RCV000201646
dbSNP Id:
rs863225152
gnomAD v4:
5-37153784-G-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37153784G>A , CM000667.2:g.37153784G>A | GRCh38 |
| NC_000005.9:g.37153886G>A , CM000667.1:g.37153886G>A | GRCh37 |
| NC_000005.8:g.37189643G>A | NCBI36 |
| NG_032772.1:g.100645C>T | |
| NG_032772.2:g.100645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1328C>T | ||
| ENST00000651892.2:c.8329C>T MANE Select | ENSP00000498265.2:p.Gln2777Ter | |
| ENST00000425232.6:c.8167C>T | ENSP00000389014.2:p.Gln2723Ter | |
| ENST00000508244.5:c.8167C>T | ENSP00000421690.1:p.Gln2723Ter | |
| ENST00000508405.1:n.61C>T | ||
| ENST00000509849.5:c.5341C>T | ENSP00000426337.1:p.Gln1781Ter | |
| ENST00000509957.5:n.571C>T | ||
| ENST00000511824.2:c.1443C>T | ||
| ENST00000514429.5:c.5365C>T | ENSP00000424223.1:p.Gln1789Ter | |
| NM_023073.3:c.8167C>T | NP_075561.3:p.Gln2723Ter | |
| XM_005248345.2:c.8329C>T | XP_005248402.1:p.Gln2777Ter | |
| XM_005248346.2:c.8326C>T | XP_005248403.1:p.Gln2776Ter | |
| XM_005248347.2:c.8326C>T | XP_005248404.1:p.Gln2776Ter | |
| XM_005248349.2:c.8218C>T | XP_005248406.1:p.Gln2740Ter | |
| XM_005248350.2:c.8200C>T | XP_005248407.1:p.Gln2734Ter | |
| XM_005248353.3:c.4972C>T | XP_005248410.1:p.Gln1658Ter | |
| XM_006714489.2:c.8329C>T | XP_006714552.1:p.Gln2777Ter | |
| XM_006714491.2:c.2902C>T | XP_006714554.1:p.Gln968Ter | |
| XM_011514085.1:c.8329C>T | XP_011512387.1:p.Gln2777Ter | |
| XM_011514086.1:c.8329C>T | XP_011512388.1:p.Gln2777Ter | |
| XM_011514087.1:c.8275C>T | XP_011512389.1:p.Gln2759Ter | |
| XM_011514088.1:c.8221C>T | XP_011512390.1:p.Gln2741Ter | |
| XM_011514089.1:c.8329C>T | XP_011512391.1:p.Gln2777Ter | |
| XM_011514090.1:c.8011C>T | XP_011512392.1:p.Gln2671Ter | |
| XM_011514091.1:c.7657C>T | XP_011512393.1:p.Gln2553Ter | |
| XM_011514092.1:c.8329C>T | XP_011512394.1:p.Gln2777Ter | |
| XM_011514094.1:c.5554C>T | XP_011512396.1:p.Gln1852Ter | |
| XR_427661.2:n.8504C>T | ||
| XR_925644.1:n.8504C>T | ||
| XM_005248345.4:c.8329C>T | XP_005248402.1:p.Gln2777Ter | |
| XM_005248346.4:c.8326C>T | XP_005248403.1:p.Gln2776Ter | |
| XM_005248347.4:c.8326C>T | XP_005248404.1:p.Gln2776Ter | |
| XM_005248349.4:c.8218C>T | XP_005248406.1:p.Gln2740Ter | |
| XM_005248350.4:c.8200C>T | XP_005248407.1:p.Gln2734Ter | |
| XM_006714491.3:c.2902C>T | XP_006714554.1:p.Gln968Ter | |
| XM_011514085.3:c.8329C>T | XP_011512387.1:p.Gln2777Ter | |
| XM_011514086.3:c.8329C>T | XP_011512388.1:p.Gln2777Ter | |
| XM_011514087.2:c.8275C>T | XP_011512389.1:p.Gln2759Ter | |
| XM_011514088.2:c.8221C>T | XP_011512390.1:p.Gln2741Ter | |
| XM_011514089.2:c.8329C>T | XP_011512391.1:p.Gln2777Ter | |
| XM_011514090.3:c.8011C>T | XP_011512392.1:p.Gln2671Ter | |
| XM_011514092.2:c.8329C>T | XP_011512394.1:p.Gln2777Ter | |
| XM_011514094.2:c.5554C>T | XP_011512396.1:p.Gln1852Ter | |
| XM_017009760.1:c.8140C>T | XP_016865249.1:p.Gln2714Ter | |
| XM_017009761.2:c.8140C>T | XP_016865250.1:p.Gln2714Ter | |
| XM_017009763.1:c.7336C>T | XP_016865252.1:p.Gln2446Ter | |
| XM_017009765.1:c.7141C>T | XP_016865254.1:p.Gln2381Ter | |
| XM_017009766.1:c.4972C>T | XP_016865255.1:p.Gln1658Ter | |
| XM_024446183.1:c.8140C>T | XP_024301951.1:p.Gln2714Ter | |
| XM_024446184.1:c.8011C>T | XP_024301952.1:p.Gln2671Ter | |
| XM_024446185.1:c.7657C>T | XP_024301953.1:p.Gln2553Ter | |
| XM_024446186.1:c.7336C>T | XP_024301954.1:p.Gln2446Ter | |
| XR_001742208.1:n.8498C>T | ||
| XR_002956171.1:n.8444C>T | ||
| XR_925644.2:n.8553C>T | ||
| NM_001384732.1:c.8329C>T MANE Select | NP_001371661.1:p.Gln2777Ter | |
| NM_023073.4:c.8167C>T | NP_075561.3:p.Gln2723Ter |