Linked Data
ClinVar Variation Id:
357394
ClinVar RCV Id:
RCV000354510
dbSNP Id:
rs558281379
gnomAD v2:
6-51482945-C-A
gnomAD v3:
6-51618147-C-A
gnomAD v4:
6-51618147-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51618147C>A , CM000668.2:g.51618147C>A | GRCh38 |
| NC_000006.11:g.51482945C>A , CM000668.1:g.51482945C>A | GRCh37 |
| NC_000006.10:g.51590904C>A | NCBI36 |
| NG_008753.1:g.474479G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.*934G>T MANE Select | ENSP00000360158.3:n.*934G>T | |
| ENST00000371117.7:c.*934G>T | ENSP00000360158.3:n.*934G>T | |
| NM_138694.3:c.*934G>T | NP_619639.3:n.*934G>T | |
| XM_011514679.1:c.*934G>T | XP_011512981.1:n.*934G>T | |
| XM_011514680.1:c.*934G>T | XP_011512982.1:n.*934G>T | |
| XM_011514681.1:c.*934G>T | XP_011512983.1:n.*934G>T | |
| XM_011514682.1:c.*934G>T | XP_011512984.1:n.*934G>T | |
| XM_011514683.1:c.*934G>T | XP_011512985.1:n.*934G>T | |
| XM_011514684.1:c.*934G>T | XP_011512986.1:n.*934G>T | |
| XM_011514690.1:c.*934G>T | XP_011512992.1:n.*934G>T | |
| XM_011514691.1:c.*934G>T | XP_011512993.1:n.*934G>T | |
| XM_011514680.3:c.*934G>T | XP_011512982.1:n.*934G>T | |
| XM_011514682.3:c.*934G>T | XP_011512984.1:n.*934G>T | |
| XM_011514683.3:c.*934G>T | XP_011512985.1:n.*934G>T | |
| XM_011514684.3:c.*934G>T | XP_011512986.1:n.*934G>T | |
| XM_011514690.3:c.*934G>T | XP_011512992.1:n.*934G>T | |
| XM_011514691.3:c.*934G>T | XP_011512993.1:n.*934G>T | |
| XM_017010944.2:c.*934G>T | XP_016866433.1:n.*934G>T | |
| XM_017010945.2:c.*934G>T | XP_016866434.1:n.*934G>T | |
| XM_017010946.2:c.*934G>T | XP_016866435.1:n.*934G>T | |
| XM_017010947.2:c.*934G>T | XP_016866436.1:n.*934G>T | |
| XM_017010948.2:c.*934G>T | XP_016866437.1:n.*934G>T | |
| XM_017010949.2:c.*934G>T | XP_016866438.1:n.*934G>T | |
| NM_138694.4:c.*934G>T MANE Select | NP_619639.3:n.*934G>T |