Linked Data
dbSNP Id:
rs748247326
ExAC:
10:101590135 G / A
gnomAD v2:
10-101590135-G-A
gnomAD v4:
10-99830378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830378G>A , CM000672.2:g.99830378G>A | GRCh38 |
| NC_000010.10:g.101590135G>A , CM000672.1:g.101590135G>A | GRCh37 |
| NC_000010.9:g.101580125G>A | NCBI36 |
| NG_011798.1:g.52673G>A | |
| NG_011798.2:g.52781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2692G>A MANE Select | ENSP00000497274.1:p.Ala898Thr | |
| ENST00000370449.8:c.2692G>A | ENSP00000359478.4:p.Ala898Thr | |
| NM_000392.4:c.2692G>A | NP_000383.1:p.Ala898Thr | |
| XM_006717630.2:c.1996G>A | XP_006717693.1:p.Ala666Thr | |
| XM_006717631.2:c.*119G>A | XP_006717694.1:n.*119G>A | |
| XM_011539291.1:c.2692G>A | XP_011537593.1:p.Ala898Thr | |
| XR_945604.1:n.2881G>A | ||
| XR_945605.1:n.2883G>A | ||
| NM_000392.5:c.2692G>A MANE Select | NP_000383.2:p.Ala898Thr | |
| XM_006717630.3:c.1996G>A | XP_006717693.1:p.Ala666Thr | |
| XM_006717631.4:c.*119G>A | XP_006717694.1:n.*119G>A | |
| XM_011539291.3:c.2692G>A | XP_011537593.1:p.Ala898Thr | |
| XR_945604.3:n.2935G>A | ||
| XR_945605.3:n.2935G>A |