Linked Data
dbSNP Id:
rs1393609335
gnomAD v2:
12-65563971-G-A
gnomAD v3:
12-65170191-G-A
gnomAD v4:
12-65170191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170191G>A , CM000674.2:g.65170191G>A | GRCh38 |
| NC_000012.11:g.65563971G>A , CM000674.1:g.65563971G>A | GRCh37 |
| NC_000012.10:g.63850238G>A | NCBI36 |
| NG_016210.1:g.5621G>A | |
| NG_016210.2:g.5621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.595G>A MANE Select | ENSP00000308369.2:p.Ala199Thr | |
| ENST00000308330.2:c.595G>A | ENSP00000308369.2:p.Ala199Thr | |
| ENST00000541171.1:n.609G>A | ||
| NM_001167614.1:c.595G>A | NP_001161086.1:p.Ala199Thr | |
| NM_014319.4:c.595G>A | NP_055134.2:p.Ala199Thr | |
| NM_014319.5:c.595G>A MANE Select | NP_055134.2:p.Ala199Thr | |
| NM_001167614.2:c.595G>A | NP_001161086.1:p.Ala199Thr |