Linked Data
dbSNP Id:
rs752960308
ExAC:
2:241818194 G / A
gnomAD v2:
2-241818194-G-A
gnomAD v4:
2-240878777-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878777G>A , CM000664.2:g.240878777G>A | GRCh38 |
| NC_000002.11:g.241818194G>A , CM000664.1:g.241818194G>A | GRCh37 |
| NC_000002.10:g.241466867G>A | NCBI36 |
| NG_008005.1:g.15033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1135G>A MANE Select | ENSP00000302620.3:p.Ala379Thr | |
| ENST00000307503.3:c.1135G>A | ENSP00000302620.3:p.Ala379Thr | |
| ENST00000470255.1:n.913G>A | ||
| NM_000030.2:c.1135G>A | NP_000021.1:p.Ala379Thr | |
| NM_000030.3:c.1135G>A MANE Select | NP_000021.1:p.Ala379Thr |