Linked Data
dbSNP Id:
rs764371902
gnomAD v2:
2-176958341-G-T
gnomAD v3:
2-176093613-G-T
gnomAD v4:
2-176093613-G-T
COSMIC:
COSM1009838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093613G>T , CM000664.2:g.176093613G>T | GRCh38 |
| NC_000002.11:g.176958341G>T , CM000664.1:g.176958341G>T | GRCh37 |
| NC_000002.10:g.176666587G>T | NCBI36 |
| NG_008137.1:g.5810G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.723G>T MANE Select | ENSP00000376322.3:p.Gln241His | |
| ENST00000392539.3:c.723G>T | ENSP00000376322.3:p.Gln241His | |
| NM_000523.3:c.723G>T | NP_000514.2:p.Gln241His | |
| XM_011511068.1:c.725-867G>T | XP_011509370.1:n.725-867G>T | |
| XM_011511068.2:c.725-867G>T | XP_011509370.1:n.725-867G>T | |
| NM_000523.4:c.723G>T MANE Select | NP_000514.2:p.Gln241His |