Linked Data
ClinVar Variation Id:
377373
ClinVar RCV Id:
RCV000430664
dbSNP Id:
rs147858483
ExAC:
1:240256187 G / A
gnomAD v2:
1-240256187-G-A
gnomAD v3:
1-240092887-G-A
gnomAD v4:
1-240092887-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240092887G>A , CM000663.2:g.240092887G>A | GRCh38 |
| NC_000001.10:g.240256187G>A , CM000663.1:g.240256187G>A | GRCh37 |
| NC_000001.9:g.238322810G>A | NCBI36 |
| NG_042054.1:g.6003G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319653.14:c.778G>A MANE Select | ENSP00000318884.9:p.Ala260Thr | |
| ENST00000319653.13:c.778G>A | ENSP00000318884.9:p.Ala260Thr | |
| ENST00000447095.5:c.-87+24814G>A | ENSP00000409308.1:n.-87+24814G>A | |
| NM_001305424.1:c.778G>A | NP_001292353.1:p.Ala260Thr | |
| NM_020066.4:c.778G>A | NP_064450.3:p.Ala260Thr | |
| XM_011544237.1:c.778G>A | XP_011542539.1:p.Ala260Thr | |
| XR_949151.1:n.999G>A | ||
| NM_001348094.1:c.778G>A | NP_001335023.1:p.Ala260Thr | |
| XM_011544237.3:c.778G>A | XP_011542539.1:p.Ala260Thr | |
| XM_017001837.1:c.778G>A | XP_016857326.1:p.Ala260Thr | |
| XM_017001838.1:c.778G>A | XP_016857327.1:p.Ala260Thr | |
| NM_020066.5:c.778G>A MANE Select | NP_064450.3:p.Ala260Thr | |
| NM_001305424.2:c.778G>A | NP_001292353.1:p.Ala260Thr | |
| NM_001348094.2:c.778G>A | NP_001335023.1:p.Ala260Thr |