Linked Data
ClinVar Variation Id:
161808
ClinVar RCV Id:
RCV000149344
dbSNP Id:
rs193921111
gnomAD v2:
6-35715194-G-T
gnomAD v4:
6-35747417-G-T
COSMIC:
COSM5521458
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35747417G>T , CM000668.2:g.35747417G>T | GRCh38 |
| NC_000006.11:g.35715194G>T , CM000668.1:g.35715194G>T | GRCh37 |
| NC_000006.10:g.35823172G>T | NCBI36 |
| NG_052798.1:g.18692G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373866.4:c.601G>T MANE Select | ENSP00000362973.3:p.Asp201Tyr | |
| ENST00000288065.6:c.682G>T | ENSP00000288065.2:p.Asp228Tyr | |
| ENST00000373866.3:c.601G>T | ENSP00000362973.3:p.Asp201Tyr | |
| ENST00000373869.7:c.601G>T | ENSP00000362976.3:p.Asp201Tyr | |
| NM_001286574.1:c.601G>T | NP_001273503.1:p.Asp201Tyr | |
| NM_001286576.1:c.601G>T | NP_001273505.1:p.Asp201Tyr | |
| NM_145028.4:c.682G>T | NP_659465.2:p.Asp228Tyr | |
| XM_006715018.2:c.340G>T | XP_006715081.1:p.Asp114Tyr | |
| XM_011514381.1:c.487G>T | XP_011512683.1:p.Asp163Tyr | |
| XM_011514382.1:c.340G>T | XP_011512684.1:p.Asp114Tyr | |
| XM_011514381.2:c.487G>T | XP_011512683.1:p.Asp163Tyr | |
| XM_011514382.2:c.340G>T | XP_011512684.1:p.Asp114Tyr | |
| XM_017010435.2:c.682G>T | XP_016865924.1:p.Asp228Tyr | |
| NM_001286574.2:c.601G>T MANE Select | NP_001273503.1:p.Asp201Tyr | |
| NM_001286576.2:c.601G>T | NP_001273505.1:p.Asp201Tyr | |
| NM_145028.5:c.682G>T | NP_659465.2:p.Asp228Tyr |