Linked Data
ClinVar Variation Id:
500795
dbSNP Id:
rs750988521
ExAC:
6:51483903 C / T
gnomAD v2:
6-51483903-C-T
gnomAD v3:
6-51619105-C-T
gnomAD v4:
6-51619105-C-T
COSMIC:
COSM3354353
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51619105C>T , CM000668.2:g.51619105C>T | GRCh38 |
| NC_000006.11:g.51483903C>T , CM000668.1:g.51483903C>T | GRCh37 |
| NC_000006.10:g.51591862C>T | NCBI36 |
| NG_008753.1:g.473521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.12201G>A MANE Select | ENSP00000360158.3:p.Pro4067= | |
| ENST00000371117.7:c.12201G>A | ENSP00000360158.3:p.Pro4067= | |
| NM_138694.3:c.12201G>A | NP_619639.3:p.Pro4067= | |
| XM_011514679.1:c.12201G>A | XP_011512981.1:p.Pro4067= | |
| XM_011514680.1:c.12201G>A | XP_011512982.1:p.Pro4067= | |
| XM_011514681.1:c.12072G>A | XP_011512983.1:p.Pro4024= | |
| XM_011514682.1:c.12063G>A | XP_011512984.1:p.Pro4021= | |
| XM_011514683.1:c.11559G>A | XP_011512985.1:p.Pro3853= | |
| XM_011514684.1:c.11490G>A | XP_011512986.1:p.Pro3830= | |
| XM_011514690.1:c.6276G>A | XP_011512992.1:p.Pro2092= | |
| XM_011514691.1:c.6276G>A | XP_011512993.1:p.Pro2092= | |
| XM_011514680.3:c.12201G>A | XP_011512982.1:p.Pro4067= | |
| XM_011514682.3:c.12063G>A | XP_011512984.1:p.Pro4021= | |
| XM_011514683.3:c.11559G>A | XP_011512985.1:p.Pro3853= | |
| XM_011514684.3:c.11490G>A | XP_011512986.1:p.Pro3830= | |
| XM_011514690.3:c.6276G>A | XP_011512992.1:p.Pro2092= | |
| XM_011514691.3:c.6276G>A | XP_011512993.1:p.Pro2092= | |
| XM_017010944.2:c.12201G>A | XP_016866433.1:p.Pro4067= | |
| XM_017010945.2:c.12126G>A | XP_016866434.1:p.Pro4042= | |
| XM_017010946.2:c.12006G>A | XP_016866435.1:p.Pro4002= | |
| XM_017010947.2:c.11937G>A | XP_016866436.1:p.Pro3979= | |
| XM_017010948.2:c.11490G>A | XP_016866437.1:p.Pro3830= | |
| XM_017010949.2:c.10341G>A | XP_016866438.1:p.Pro3447= | |
| NM_138694.4:c.12201G>A MANE Select | NP_619639.3:p.Pro4067= |