Linked Data
ClinVar Variation Id:
2369327
ClinVar RCV Id:
RCV004213981
dbSNP Id:
rs773605523
ExAC:
8:135524750 G / A
gnomAD v2:
8-135524750-G-A
gnomAD v3:
8-134512507-G-A
gnomAD v4:
8-134512507-G-A
COSMIC:
COSM1455024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.134512507G>A , CM000670.2:g.134512507G>A | GRCh38 |
| NC_000008.10:g.135524750G>A , CM000670.1:g.135524750G>A | GRCh37 |
| NC_000008.9:g.135593932G>A | NCBI36 |
| NG_016356.1:g.205543C>T | |
| NG_016356.2:g.205543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377838.8:c.3329C>T MANE Select | ENSP00000367069.3:p.Ala1110Val | |
| ENST00000377838.7:c.3329C>T | ENSP00000367069.3:p.Ala1110Val | |
| ENST00000429442.6:c.3293C>T | ENSP00000394501.2:p.Ala1098Val | |
| ENST00000518408.5:n.692C>T | ||
| ENST00000520214.5:c.3293C>T | ENSP00000428483.1:p.Ala1098Val | |
| ENST00000520356.5:c.3198+8376C>T | ENSP00000427879.1:n.3198+8376C>T | |
| ENST00000520727.5:c.3293C>T | ENSP00000427831.1:p.Ala1098Val | |
| ENST00000523243.5:c.*498C>T | ENSP00000429930.1:n.*498C>T | |
| ENST00000523399.5:c.3143C>T | ENSP00000429091.1:p.Ala1048Val | |
| ENST00000523924.5:c.*3311C>T | ENSP00000429050.1:n.*3311C>T | |
| NM_001029939.3:c.3293C>T | NP_001025110.2:p.Ala1098Val | |
| NM_001167583.2:c.3293C>T | NP_001161055.1:p.Ala1098Val | |
| NM_001174157.1:c.3143C>T | NP_001167628.1:p.Ala1048Val | |
| NM_001174158.1:c.3198+8376C>T | NP_001167629.1:n.3198+8376C>T | |
| NM_001289394.1:c.3293C>T | NP_001276323.1:p.Ala1098Val | |
| NM_020863.3:c.3329C>T | NP_065914.2:p.Ala1110Val | |
| NR_110323.1:n.3681C>T | ||
| XM_011517203.1:c.3293C>T | XP_011515505.1:p.Ala1098Val | |
| XM_011517204.1:c.3143C>T | XP_011515506.1:p.Ala1048Val | |
| XM_011517206.1:c.3293C>T | XP_011515508.1:p.Ala1098Val | |
| XR_928343.1:n.3310C>T | ||
| XM_011517204.2:c.3143C>T | XP_011515506.1:p.Ala1048Val | |
| XM_011517206.2:c.3293C>T | XP_011515508.1:p.Ala1098Val | |
| XM_017013716.1:c.3293C>T | XP_016869205.1:p.Ala1098Val | |
| XR_001745569.1:n.3221C>T | ||
| XR_928343.2:n.3310C>T | ||
| NM_020863.4:c.3329C>T MANE Select | NP_065914.2:p.Ala1110Val | |
| NM_001029939.4:c.3293C>T | NP_001025110.2:p.Ala1098Val | |
| NM_001167583.3:c.3293C>T | NP_001161055.1:p.Ala1098Val | |
| NM_001174157.2:c.3143C>T | NP_001167628.1:p.Ala1048Val | |
| NM_001174158.2:c.3198+8376C>T | NP_001167629.1:n.3198+8376C>T | |
| NM_001289394.2:c.3293C>T | NP_001276323.1:p.Ala1098Val | |
| NR_110323.2:n.3663C>T |