Linked Data
ClinVar Variation Id:
188896
dbSNP Id:
rs148617572
ExAC:
6:51524480 G / A
gnomAD v2:
6-51524480-G-A
gnomAD v3:
6-51659682-G-A
gnomAD v4:
6-51659682-G-A
COSMIC:
COSM173140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659682G>A , CM000668.2:g.51659682G>A | GRCh38 |
| NC_000006.11:g.51524480G>A , CM000668.1:g.51524480G>A | GRCh37 |
| NC_000006.10:g.51632439G>A | NCBI36 |
| NG_008753.1:g.432944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10444C>T MANE Select | ENSP00000360158.3:p.Arg3482Cys | |
| ENST00000371117.7:c.10444C>T | ENSP00000360158.3:p.Arg3482Cys | |
| NM_138694.3:c.10444C>T | NP_619639.3:p.Arg3482Cys | |
| XM_011514679.1:c.10444C>T | XP_011512981.1:p.Arg3482Cys | |
| XM_011514680.1:c.10444C>T | XP_011512982.1:p.Arg3482Cys | |
| XM_011514681.1:c.10315C>T | XP_011512983.1:p.Arg3439Cys | |
| XM_011514682.1:c.10306C>T | XP_011512984.1:p.Arg3436Cys | |
| XM_011514683.1:c.9802C>T | XP_011512985.1:p.Arg3268Cys | |
| XM_011514684.1:c.9733C>T | XP_011512986.1:p.Arg3245Cys | |
| XM_011514687.1:c.10157-10462C>T | XP_011512989.1:n.10157-10462C>T | |
| XM_011514690.1:c.4519C>T | XP_011512992.1:p.Arg1507Cys | |
| XM_011514691.1:c.4519C>T | XP_011512993.1:p.Arg1507Cys | |
| XR_926870.1:n.535+7309G>A | ||
| XR_926871.1:n.403+7309G>A | ||
| XR_926872.1:n.535+7309G>A | ||
| XM_011514680.3:c.10444C>T | XP_011512982.1:p.Arg3482Cys | |
| XM_011514682.3:c.10306C>T | XP_011512984.1:p.Arg3436Cys | |
| XM_011514683.3:c.9802C>T | XP_011512985.1:p.Arg3268Cys | |
| XM_011514684.3:c.9733C>T | XP_011512986.1:p.Arg3245Cys | |
| XM_011514690.3:c.4519C>T | XP_011512992.1:p.Arg1507Cys | |
| XM_011514691.3:c.4519C>T | XP_011512993.1:p.Arg1507Cys | |
| XM_017010944.2:c.10444C>T | XP_016866433.1:p.Arg3482Cys | |
| XM_017010945.2:c.10369C>T | XP_016866434.1:p.Arg3457Cys | |
| XM_017010946.2:c.10249C>T | XP_016866435.1:p.Arg3417Cys | |
| XM_017010947.2:c.10180C>T | XP_016866436.1:p.Arg3394Cys | |
| XM_017010948.2:c.9733C>T | XP_016866437.1:p.Arg3245Cys | |
| XM_017010949.2:c.8584C>T | XP_016866438.1:p.Arg2862Cys | |
| XR_001743469.1:n.10720C>T | ||
| XR_001744157.1:n.3145+7309G>A | ||
| XR_926870.2:n.3145+7309G>A | ||
| XR_926871.2:n.3013+7309G>A | ||
| XR_926872.2:n.3145+7309G>A | ||
| NM_138694.4:c.10444C>T MANE Select | NP_619639.3:p.Arg3482Cys |