Linked Data
ClinVar Variation Id:
357363
ClinVar RCV Id:
RCV000372784
dbSNP Id:
rs2771012
gnomAD v2:
6-51480854-G-A
gnomAD v3:
6-51616056-G-A
gnomAD v4:
6-51616056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51616056G>A , CM000668.2:g.51616056G>A | GRCh38 |
| NC_000006.11:g.51480854G>A , CM000668.1:g.51480854G>A | GRCh37 |
| NC_000006.10:g.51588813G>A | NCBI36 |
| NG_008753.1:g.476570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.*3025C>T MANE Select | ENSP00000360158.3:n.*3025C>T | |
| ENST00000371117.7:c.*3025C>T | ENSP00000360158.3:n.*3025C>T | |
| NM_138694.3:c.*3025C>T | NP_619639.3:n.*3025C>T | |
| XM_011514679.1:c.*3025C>T | XP_011512981.1:n.*3025C>T | |
| XM_011514680.1:c.*3025C>T | XP_011512982.1:n.*3025C>T | |
| XM_011514681.1:c.*3025C>T | XP_011512983.1:n.*3025C>T | |
| XM_011514682.1:c.*3025C>T | XP_011512984.1:n.*3025C>T | |
| XM_011514683.1:c.*3025C>T | XP_011512985.1:n.*3025C>T | |
| XM_011514684.1:c.*3025C>T | XP_011512986.1:n.*3025C>T | |
| XM_011514690.1:c.*3025C>T | XP_011512992.1:n.*3025C>T | |
| XM_011514691.1:c.*3025C>T | XP_011512993.1:n.*3025C>T | |
| XM_011514680.3:c.*3025C>T | XP_011512982.1:n.*3025C>T | |
| XM_011514682.3:c.*3025C>T | XP_011512984.1:n.*3025C>T | |
| XM_011514683.3:c.*3025C>T | XP_011512985.1:n.*3025C>T | |
| XM_011514684.3:c.*3025C>T | XP_011512986.1:n.*3025C>T | |
| XM_011514690.3:c.*3025C>T | XP_011512992.1:n.*3025C>T | |
| XM_011514691.3:c.*3025C>T | XP_011512993.1:n.*3025C>T | |
| XM_017010944.2:c.*3025C>T | XP_016866433.1:n.*3025C>T | |
| XM_017010945.2:c.*3025C>T | XP_016866434.1:n.*3025C>T | |
| XM_017010946.2:c.*3025C>T | XP_016866435.1:n.*3025C>T | |
| XM_017010947.2:c.*3025C>T | XP_016866436.1:n.*3025C>T | |
| XM_017010948.2:c.*3025C>T | XP_016866437.1:n.*3025C>T | |
| XM_017010949.2:c.*3025C>T | XP_016866438.1:n.*3025C>T | |
| NM_138694.4:c.*3025C>T MANE Select | NP_619639.3:n.*3025C>T |