Linked Data
dbSNP Id:
rs1283092813
gnomAD v3:
1-171652495-C-T
gnomAD v4:
1-171652495-C-T
COSMIC:
COSM4522767
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652495C>T , CM000663.2:g.171652495C>T | GRCh38 |
| NC_000001.10:g.171621635C>T , CM000663.1:g.171621635C>T | GRCh37 |
| NC_000001.9:g.169888258C>T | NCBI36 |
| NG_008859.1:g.5139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.117G>A MANE Select | ENSP00000037502.5:p.Lys39= | |
| ENST00000638471.1:c.117G>A | ENSP00000491206.1:p.Lys39= | |
| ENST00000037502.10:c.117G>A | ENSP00000037502.5:p.Lys39= | |
| ENST00000614688.1:c.117G>A | ENSP00000478680.1:p.Lys39= | |
| NM_000261.1:c.117G>A | NP_000252.1:p.Lys39= | |
| NM_000261.2:c.117G>A MANE Select | NP_000252.1:p.Lys39= |