Linked Data
dbSNP Id:
rs149432670
ExAC:
1:152277248 C / T
gnomAD v2:
1-152277248-C-T
gnomAD v3:
1-152304772-C-T
gnomAD v4:
1-152304772-C-T
COSMIC:
COSM1127388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304772C>T , CM000663.2:g.152304772C>T | GRCh38 |
| NC_000001.10:g.152277248C>T , CM000663.1:g.152277248C>T | GRCh37 |
| NC_000001.9:g.150543872C>T | NCBI36 |
| NG_016190.1:g.25432G>A , LRG_1028:g.25432G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10114G>A MANE Select | ENSP00000357789.1:p.Ala3372Thr | |
| ENST00000368799.1:c.10114G>A | ENSP00000357789.1:p.Ala3372Thr | |
| NM_002016.1:c.10114G>A , LRG_1028t1:c.10114G>A | NP_002007.1:p.Ala3372Thr | |
| XM_011509329.1:c.9109-939G>A | XP_011507631.1:n.9109-939G>A | |
| NM_002016.2:c.10114G>A MANE Select | NP_002007.1:p.Ala3372Thr |