Linked Data
ClinVar Variation Id:
1327729
dbSNP Id:
rs151198392
ExAC:
6:51491843 G / A
gnomAD v2:
6-51491843-G-A
gnomAD v3:
6-51627045-G-A
gnomAD v4:
6-51627045-G-A
COSMIC:
COSM1262290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51627045G>A , CM000668.2:g.51627045G>A | GRCh38 |
| NC_000006.11:g.51491843G>A , CM000668.1:g.51491843G>A | GRCh37 |
| NC_000006.10:g.51599802G>A | NCBI36 |
| NG_008753.1:g.465581C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11737C>T MANE Select | ENSP00000360158.3:p.Arg3913Cys | |
| ENST00000371117.7:c.11737C>T | ENSP00000360158.3:p.Arg3913Cys | |
| NM_138694.3:c.11737C>T | NP_619639.3:p.Arg3913Cys | |
| XM_011514679.1:c.11737C>T | XP_011512981.1:p.Arg3913Cys | |
| XM_011514680.1:c.11737C>T | XP_011512982.1:p.Arg3913Cys | |
| XM_011514681.1:c.11608C>T | XP_011512983.1:p.Arg3870Cys | |
| XM_011514682.1:c.11599C>T | XP_011512984.1:p.Arg3867Cys | |
| XM_011514683.1:c.11095C>T | XP_011512985.1:p.Arg3699Cys | |
| XM_011514684.1:c.11026C>T | XP_011512986.1:p.Arg3676Cys | |
| XM_011514690.1:c.5812C>T | XP_011512992.1:p.Arg1938Cys | |
| XM_011514691.1:c.5812C>T | XP_011512993.1:p.Arg1938Cys | |
| XM_011514680.3:c.11737C>T | XP_011512982.1:p.Arg3913Cys | |
| XM_011514682.3:c.11599C>T | XP_011512984.1:p.Arg3867Cys | |
| XM_011514683.3:c.11095C>T | XP_011512985.1:p.Arg3699Cys | |
| XM_011514684.3:c.11026C>T | XP_011512986.1:p.Arg3676Cys | |
| XM_011514690.3:c.5812C>T | XP_011512992.1:p.Arg1938Cys | |
| XM_011514691.3:c.5812C>T | XP_011512993.1:p.Arg1938Cys | |
| XM_017010944.2:c.11737C>T | XP_016866433.1:p.Arg3913Cys | |
| XM_017010945.2:c.11662C>T | XP_016866434.1:p.Arg3888Cys | |
| XM_017010946.2:c.11542C>T | XP_016866435.1:p.Arg3848Cys | |
| XM_017010947.2:c.11473C>T | XP_016866436.1:p.Arg3825Cys | |
| XM_017010948.2:c.11026C>T | XP_016866437.1:p.Arg3676Cys | |
| XM_017010949.2:c.9877C>T | XP_016866438.1:p.Arg3293Cys | |
| NM_138694.4:c.11737C>T MANE Select | NP_619639.3:p.Arg3913Cys |