Linked Data
dbSNP Id:
rs1161305021
gnomAD v3:
1-171652329-G-T
gnomAD v4:
1-171652329-G-T
COSMIC:
COSM4602648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652329G>T , CM000663.2:g.171652329G>T | GRCh38 |
| NC_000001.10:g.171621469G>T , CM000663.1:g.171621469G>T | GRCh37 |
| NC_000001.9:g.169888092G>T | NCBI36 |
| NG_008859.1:g.5305C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.283C>A MANE Select | ENSP00000037502.5:p.Leu95Met | |
| ENST00000638471.1:c.130+153C>A | ENSP00000491206.1:n.130+153C>A | |
| ENST00000037502.10:c.283C>A | ENSP00000037502.5:p.Leu95Met | |
| ENST00000614688.1:c.283C>A | ENSP00000478680.1:p.Leu95Met | |
| NM_000261.1:c.283C>A | NP_000252.1:p.Leu95Met | |
| NM_000261.2:c.283C>A MANE Select | NP_000252.1:p.Leu95Met |