Linked Data
dbSNP Id:
rs765922774
ExAC:
12:6167120 C / T
gnomAD v2:
12-6167120-C-T
gnomAD v4:
12-6057954-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6057954C>T , CM000674.2:g.6057954C>T | GRCh38 |
| NC_000012.11:g.6167120C>T , CM000674.1:g.6167120C>T | GRCh37 |
| NC_000012.10:g.6037381C>T | NCBI36 |
| NG_009072.1:g.71717G>A | |
| NG_009072.2:g.71717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1624G>A MANE Select | ENSP00000261405.5:p.Ala542Thr | |
| ENST00000261405.9:c.1624G>A | ENSP00000261405.5:p.Ala542Thr | |
| ENST00000538635.5:n.420+52561G>A | ||
| NM_000552.3:c.1624G>A | NP_000543.2:p.Ala542Thr | |
| NM_000552.4:c.1624G>A | NP_000543.2:p.Ala542Thr | |
| NM_000552.5:c.1624G>A MANE Select | NP_000543.3:p.Ala542Thr |