Linked Data
ClinVar Variation Id:
4115
dbSNP Id:
rs137852950
ExAC:
6:51524512 A / C
gnomAD v2:
6-51524512-A-C
gnomAD v3:
6-51659714-A-C
gnomAD v4:
6-51659714-A-C
PubMed:
PMID:12506140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659714A>C , CM000668.2:g.51659714A>C | GRCh38 |
| NC_000006.11:g.51524512A>C , CM000668.1:g.51524512A>C | GRCh37 |
| NC_000006.10:g.51632471A>C | NCBI36 |
| NG_008753.1:g.432912T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.10412T>G MANE Select | ENSP00000360158.3:p.Val3471Gly | |
| ENST00000371117.7:c.10412T>G | ENSP00000360158.3:p.Val3471Gly | |
| NM_138694.3:c.10412T>G | NP_619639.3:p.Val3471Gly | |
| XM_011514679.1:c.10412T>G | XP_011512981.1:p.Val3471Gly | |
| XM_011514680.1:c.10412T>G | XP_011512982.1:p.Val3471Gly | |
| XM_011514681.1:c.10283T>G | XP_011512983.1:p.Val3428Gly | |
| XM_011514682.1:c.10274T>G | XP_011512984.1:p.Val3425Gly | |
| XM_011514683.1:c.9770T>G | XP_011512985.1:p.Val3257Gly | |
| XM_011514684.1:c.9701T>G | XP_011512986.1:p.Val3234Gly | |
| XM_011514687.1:c.10157-10494T>G | XP_011512989.1:n.10157-10494T>G | |
| XM_011514690.1:c.4487T>G | XP_011512992.1:p.Val1496Gly | |
| XM_011514691.1:c.4487T>G | XP_011512993.1:p.Val1496Gly | |
| XR_926870.1:n.535+7341A>C | ||
| XR_926871.1:n.403+7341A>C | ||
| XR_926872.1:n.535+7341A>C | ||
| XM_011514680.3:c.10412T>G | XP_011512982.1:p.Val3471Gly | |
| XM_011514682.3:c.10274T>G | XP_011512984.1:p.Val3425Gly | |
| XM_011514683.3:c.9770T>G | XP_011512985.1:p.Val3257Gly | |
| XM_011514684.3:c.9701T>G | XP_011512986.1:p.Val3234Gly | |
| XM_011514690.3:c.4487T>G | XP_011512992.1:p.Val1496Gly | |
| XM_011514691.3:c.4487T>G | XP_011512993.1:p.Val1496Gly | |
| XM_017010944.2:c.10412T>G | XP_016866433.1:p.Val3471Gly | |
| XM_017010945.2:c.10337T>G | XP_016866434.1:p.Val3446Gly | |
| XM_017010946.2:c.10217T>G | XP_016866435.1:p.Val3406Gly | |
| XM_017010947.2:c.10148T>G | XP_016866436.1:p.Val3383Gly | |
| XM_017010948.2:c.9701T>G | XP_016866437.1:p.Val3234Gly | |
| XM_017010949.2:c.8552T>G | XP_016866438.1:p.Val2851Gly | |
| XR_001743469.1:n.10688T>G | ||
| XR_001744157.1:n.3145+7341A>C | ||
| XR_926870.2:n.3145+7341A>C | ||
| XR_926871.2:n.3013+7341A>C | ||
| XR_926872.2:n.3145+7341A>C | ||
| NM_138694.4:c.10412T>G MANE Select | NP_619639.3:p.Val3471Gly |