Linked Data
dbSNP Id:
rs751346535
ExAC:
1:159683588 C / T
gnomAD v2:
1-159683588-C-T
gnomAD v3:
1-159713798-C-T
gnomAD v4:
1-159713798-C-T
COSMIC:
COSM5378109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159713798C>T , CM000663.2:g.159713798C>T | GRCh38 |
| NC_000001.10:g.159683588C>T , CM000663.1:g.159683588C>T | GRCh37 |
| NC_000001.9:g.157950212C>T | NCBI36 |
| NG_013007.1:g.5792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255030.9:c.402G>A MANE Select | ENSP00000255030.5:p.Arg134= | |
| ENST00000368110.1:c.194-158G>A | ENSP00000357091.1:n.194-158G>A | |
| ENST00000368111.5:c.194-158G>A | ENSP00000357092.1:n.194-158G>A | |
| ENST00000368112.5:c.198-195G>A | ENSP00000357093.1:n.198-195G>A | |
| ENST00000437342.1:c.-133G>A | ENSP00000402788.1:n.-133G>A | |
| ENST00000489317.1:n.74+209G>A | ||
| NM_000567.2:c.402G>A | NP_000558.2:p.Arg134= | |
| XM_011509207.1:c.402G>A | XP_011507509.1:p.Arg134= | |
| NM_001329057.1:c.402G>A | NP_001315986.1:p.Arg134= | |
| NM_001329058.1:c.198-195G>A | NP_001315987.1:n.198-195G>A | |
| NM_000567.3:c.402G>A MANE Select | NP_000558.2:p.Arg134= | |
| NM_001329057.2:c.402G>A | NP_001315986.1:p.Arg134= | |
| NM_001329058.2:c.198-195G>A | NP_001315987.1:n.198-195G>A | |
| NM_001382703.1:c.194-158G>A | NP_001369632.1:n.194-158G>A |