Linked Data
ClinVar Variation Id:
164
ClinVar RCV Id:
RCV000000187
dbSNP Id:
rs121965049
PubMed:
PMID:2793865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124401785G>A , CM000672.2:g.124401785G>A | GRCh38 |
| NC_000010.10:g.126090354G>A , CM000672.1:g.126090354G>A | GRCh37 |
| NC_000010.9:g.126080344G>A | NCBI36 |
| NG_008861.1:g.22166C>T , LRG_685:g.22166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.955C>T MANE Select | ENSP00000357838.5:p.His319Tyr | |
| ENST00000368845.5:c.955C>T | ENSP00000357838.5:p.His319Tyr | |
| ENST00000467675.5:n.756C>T | ||
| ENST00000471127.1:n.465C>T | ||
| ENST00000539214.5:c.541C>T | ENSP00000439042.1:p.His181Tyr | |
| NM_000274.3:c.955C>T , LRG_685t1:c.955C>T | NP_000265.1:p.His319Tyr | |
| NM_001171814.1:c.541C>T | NP_001165285.1:p.His181Tyr | |
| XM_006717871.2:c.955C>T | XP_006717934.1:p.His319Tyr | |
| XM_011539833.1:c.955C>T | XP_011538135.1:p.His319Tyr | |
| XM_011539834.1:c.955C>T | XP_011538136.1:p.His319Tyr | |
| NM_001322965.1:c.955C>T | NP_001309894.1:p.His319Tyr | |
| NM_001322966.1:c.955C>T | NP_001309895.1:p.His319Tyr | |
| NM_001322967.1:c.955C>T | NP_001309896.1:p.His319Tyr | |
| NM_001322968.1:c.955C>T | NP_001309897.1:p.His319Tyr | |
| NM_001322969.1:c.955C>T | NP_001309898.1:p.His319Tyr | |
| NM_001322970.1:c.955C>T | NP_001309899.1:p.His319Tyr | |
| NM_001322971.1:c.634C>T | NP_001309900.1:p.His212Tyr | |
| NM_001322974.1:c.355C>T | NP_001309903.1:p.His119Tyr | |
| XM_017016279.1:c.355C>T | XP_016871768.1:p.His119Tyr | |
| NM_000274.4:c.955C>T MANE Select | NP_000265.1:p.His319Tyr | |
| NM_001322965.2:c.955C>T | NP_001309894.1:p.His319Tyr | |
| NM_001322966.2:c.955C>T | NP_001309895.1:p.His319Tyr | |
| NM_001322967.2:c.955C>T | NP_001309896.1:p.His319Tyr | |
| NM_001322968.2:c.955C>T | NP_001309897.1:p.His319Tyr | |
| NM_001322969.2:c.955C>T | NP_001309898.1:p.His319Tyr | |
| NM_001322970.2:c.955C>T | NP_001309899.1:p.His319Tyr | |
| NM_001322971.2:c.634C>T | NP_001309900.1:p.His212Tyr | |
| NM_001322974.2:c.355C>T | NP_001309903.1:p.His119Tyr | |
| NM_001171814.2:c.541C>T | NP_001165285.1:p.His181Tyr |