Linked Data
ClinVar Variation Id:
151
ClinVar RCV Id:
RCV000000174
dbSNP Id:
rs121965038
PubMed:
PMID:1737786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124408887C>A , CM000672.2:g.124408887C>A | GRCh38 |
| NC_000010.10:g.126097456C>A , CM000672.1:g.126097456C>A | GRCh37 |
| NC_000010.9:g.126087446C>A | NCBI36 |
| NG_008861.1:g.15064G>T , LRG_685:g.15064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.278G>T MANE Select | ENSP00000357838.5:p.Cys93Phe | |
| ENST00000368845.5:c.278G>T | ENSP00000357838.5:p.Cys93Phe | |
| ENST00000476917.5:n.343G>T | ||
| ENST00000490096.5:n.514G>T | ||
| ENST00000539214.5:c.-137G>T | ENSP00000439042.1:n.-137G>T | |
| NM_000274.3:c.278G>T , LRG_685t1:c.278G>T | NP_000265.1:p.Cys93Phe | |
| NM_001171814.1:c.-137G>T | NP_001165285.1:n.-137G>T | |
| XM_006717871.2:c.278G>T | XP_006717934.1:p.Cys93Phe | |
| XM_011539833.1:c.278G>T | XP_011538135.1:p.Cys93Phe | |
| XM_011539834.1:c.278G>T | XP_011538136.1:p.Cys93Phe | |
| NM_001322965.1:c.278G>T | NP_001309894.1:p.Cys93Phe | |
| NM_001322966.1:c.278G>T | NP_001309895.1:p.Cys93Phe | |
| NM_001322967.1:c.278G>T | NP_001309896.1:p.Cys93Phe | |
| NM_001322968.1:c.278G>T | NP_001309897.1:p.Cys93Phe | |
| NM_001322969.1:c.278G>T | NP_001309898.1:p.Cys93Phe | |
| NM_001322970.1:c.278G>T | NP_001309899.1:p.Cys93Phe | |
| NM_001322971.1:c.199+3086G>T | NP_001309900.1:n.199+3086G>T | |
| NM_001322974.1:c.-437G>T | NP_001309903.1:n.-437G>T | |
| XM_017016279.1:c.-2176G>T | XP_016871768.1:n.-2176G>T | |
| NM_000274.4:c.278G>T MANE Select | NP_000265.1:p.Cys93Phe | |
| NM_001322965.2:c.278G>T | NP_001309894.1:p.Cys93Phe | |
| NM_001322966.2:c.278G>T | NP_001309895.1:p.Cys93Phe | |
| NM_001322967.2:c.278G>T | NP_001309896.1:p.Cys93Phe | |
| NM_001322968.2:c.278G>T | NP_001309897.1:p.Cys93Phe | |
| NM_001322969.2:c.278G>T | NP_001309898.1:p.Cys93Phe | |
| NM_001322970.2:c.278G>T | NP_001309899.1:p.Cys93Phe | |
| NM_001322971.2:c.199+3086G>T | NP_001309900.1:n.199+3086G>T | |
| NM_001322974.2:c.-437G>T | NP_001309903.1:n.-437G>T | |
| NM_001171814.2:c.-137G>T | NP_001165285.1:n.-137G>T |