Linked Data
dbSNP Id:
rs142956629
gnomAD v2:
12-6167193-G-T
gnomAD v3:
12-6058027-G-T
gnomAD v4:
12-6058027-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6058027G>T , CM000674.2:g.6058027G>T | GRCh38 |
| NC_000012.11:g.6167193G>T , CM000674.1:g.6167193G>T | GRCh37 |
| NC_000012.10:g.6037454G>T | NCBI36 |
| NG_009072.1:g.71644C>A | |
| NG_009072.2:g.71644C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1551C>A MANE Select | ENSP00000261405.5:p.Ala517= | |
| ENST00000261405.9:c.1551C>A | ENSP00000261405.5:p.Ala517= | |
| ENST00000538635.5:n.420+52488C>A | ||
| NM_000552.3:c.1551C>A | NP_000543.2:p.Ala517= | |
| NM_000552.4:c.1551C>A | NP_000543.2:p.Ala517= | |
| NM_000552.5:c.1551C>A MANE Select | NP_000543.3:p.Ala517= |