Linked Data
ClinVar Variation Id:
31224
ClinVar RCV Id:
RCV000034938
dbSNP Id:
rs111294855
ExAC:
5:37157484 C / T
gnomAD v2:
5-37157484-C-T
gnomAD v3:
5-37157382-C-T
gnomAD v4:
5-37157382-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37157382C>T , CM000667.2:g.37157382C>T | GRCh38 |
| NC_000005.9:g.37157484C>T , CM000667.1:g.37157484C>T | GRCh37 |
| NC_000005.8:g.37193241C>T | NCBI36 |
| NG_032772.1:g.97047G>A | |
| NG_032772.2:g.97047G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510830.2:n.1049G>A | ||
| ENST00000651892.2:c.8050G>A MANE Select | ENSP00000498265.2:p.Ala2684Thr | |
| ENST00000425232.6:c.7957+288G>A | ENSP00000389014.2:n.7957+288G>A | |
| ENST00000508244.5:c.7957+288G>A | ENSP00000421690.1:n.7957+288G>A | |
| ENST00000509849.5:c.5062G>A | ENSP00000426337.1:p.Ala1688Thr | |
| ENST00000509957.5:n.292G>A | ||
| ENST00000511210.5:n.341G>A | ||
| ENST00000511824.2:c.1164G>A | ||
| ENST00000514429.5:c.5155+288G>A | ENSP00000424223.1:n.5155+288G>A | |
| ENST00000515380.1:n.302G>A | ||
| NM_023073.3:c.7957+288G>A | NP_075561.3:n.7957+288G>A | |
| XM_005248345.2:c.8050G>A | XP_005248402.1:p.Ala2684Thr | |
| XM_005248346.2:c.8047G>A | XP_005248403.1:p.Ala2683Thr | |
| XM_005248347.2:c.8047G>A | XP_005248404.1:p.Ala2683Thr | |
| XM_005248349.2:c.8008+288G>A | XP_005248406.1:n.8008+288G>A | |
| XM_005248350.2:c.7921G>A | XP_005248407.1:p.Ala2641Thr | |
| XM_005248353.3:c.4693G>A | XP_005248410.1:p.Ala1565Thr | |
| XM_006714489.2:c.8050G>A | XP_006714552.1:p.Ala2684Thr | |
| XM_006714491.2:c.2623G>A | XP_006714554.1:p.Ala875Thr | |
| XM_011514085.1:c.8050G>A | XP_011512387.1:p.Ala2684Thr | |
| XM_011514086.1:c.8050G>A | XP_011512388.1:p.Ala2684Thr | |
| XM_011514087.1:c.7996G>A | XP_011512389.1:p.Ala2666Thr | |
| XM_011514088.1:c.8011+288G>A | XP_011512390.1:n.8011+288G>A | |
| XM_011514089.1:c.8050G>A | XP_011512391.1:p.Ala2684Thr | |
| XM_011514090.1:c.7732G>A | XP_011512392.1:p.Ala2578Thr | |
| XM_011514091.1:c.7378G>A | XP_011512393.1:p.Ala2460Thr | |
| XM_011514092.1:c.8050G>A | XP_011512394.1:p.Ala2684Thr | |
| XM_011514094.1:c.5275G>A | XP_011512396.1:p.Ala1759Thr | |
| XR_427661.2:n.8225G>A | ||
| XR_925644.1:n.8225G>A | ||
| XM_005248345.4:c.8050G>A | XP_005248402.1:p.Ala2684Thr | |
| XM_005248346.4:c.8047G>A | XP_005248403.1:p.Ala2683Thr | |
| XM_005248347.4:c.8047G>A | XP_005248404.1:p.Ala2683Thr | |
| XM_005248349.4:c.8008+288G>A | XP_005248406.1:n.8008+288G>A | |
| XM_005248350.4:c.7921G>A | XP_005248407.1:p.Ala2641Thr | |
| XM_006714491.3:c.2623G>A | XP_006714554.1:p.Ala875Thr | |
| XM_011514085.3:c.8050G>A | XP_011512387.1:p.Ala2684Thr | |
| XM_011514086.3:c.8050G>A | XP_011512388.1:p.Ala2684Thr | |
| XM_011514087.2:c.7996G>A | XP_011512389.1:p.Ala2666Thr | |
| XM_011514088.2:c.8011+288G>A | XP_011512390.1:n.8011+288G>A | |
| XM_011514089.2:c.8050G>A | XP_011512391.1:p.Ala2684Thr | |
| XM_011514090.3:c.7732G>A | XP_011512392.1:p.Ala2578Thr | |
| XM_011514092.2:c.8050G>A | XP_011512394.1:p.Ala2684Thr | |
| XM_011514094.2:c.5275G>A | XP_011512396.1:p.Ala1759Thr | |
| XM_017009760.1:c.7861G>A | XP_016865249.1:p.Ala2621Thr | |
| XM_017009761.2:c.7861G>A | XP_016865250.1:p.Ala2621Thr | |
| XM_017009763.1:c.7057G>A | XP_016865252.1:p.Ala2353Thr | |
| XM_017009765.1:c.6862G>A | XP_016865254.1:p.Ala2288Thr | |
| XM_017009766.1:c.4693G>A | XP_016865255.1:p.Ala1565Thr | |
| XM_024446183.1:c.7861G>A | XP_024301951.1:p.Ala2621Thr | |
| XM_024446184.1:c.7732G>A | XP_024301952.1:p.Ala2578Thr | |
| XM_024446185.1:c.7378G>A | XP_024301953.1:p.Ala2460Thr | |
| XM_024446186.1:c.7057G>A | XP_024301954.1:p.Ala2353Thr | |
| XR_001742208.1:n.8219G>A | ||
| XR_002956171.1:n.8165G>A | ||
| XR_925644.2:n.8274G>A | ||
| NM_001384732.1:c.8050G>A MANE Select | NP_001371661.1:p.Ala2684Thr | |
| NM_023073.4:c.7957+288G>A | NP_075561.3:n.7957+288G>A |