Linked Data
ClinVar Variation Id:
2091063
ClinVar RCV Id:
RCV003013419
dbSNP Id:
rs1184114108
gnomAD v2:
1-197446797-G-A
gnomAD v4:
1-197477667-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477667G>A , CM000663.2:g.197477667G>A | GRCh38 |
| NC_000001.10:g.197446797G>A , CM000663.1:g.197446797G>A | GRCh37 |
| NC_000001.9:g.195713420G>A | NCBI36 |
| NG_008483.1:g.214390G>A | |
| NG_008483.2:g.281206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4009G>A MANE Select | ENSP00000356370.3:p.Ala1337Thr | |
| ENST00000367399.6:c.3673G>A | ENSP00000356369.2:p.Ala1225Thr | |
| ENST00000367400.7:c.4009G>A | ENSP00000356370.3:p.Ala1337Thr | |
| ENST00000448952.1:c.243G>A | ENSP00000395407.1:n.243G>A | |
| ENST00000484075.5:c.*120G>A | ENSP00000433932.1:n.*120G>A | |
| ENST00000535699.5:c.3937G>A | ENSP00000438786.1:p.Ala1313Thr | |
| ENST00000538660.5:c.2401G>A | ENSP00000438091.1:p.Ala801Thr | |
| NM_001193640.1:c.3673G>A | NP_001180569.1:p.Ala1225Thr | |
| NM_001257965.1:c.3937G>A | NP_001244894.1:p.Ala1313Thr | |
| NM_001257966.1:c.2401G>A | NP_001244895.1:p.Ala801Thr | |
| NM_201253.2:c.4009G>A | NP_957705.1:p.Ala1337Thr | |
| NR_047563.1:n.4010G>A | ||
| NR_047564.1:n.4460G>A | ||
| XM_011509366.1:c.*114G>A | XP_011507668.1:n.*114G>A | |
| XM_011509367.1:c.3882G>A | XP_011507669.1:p.Trp1294Ter | |
| XM_011509368.1:c.3427G>A | XP_011507670.1:p.Ala1143Thr | |
| XM_011509369.1:c.2452G>A | XP_011507671.1:p.Ala818Thr | |
| XM_011509369.2:c.2452G>A | XP_011507671.1:p.Ala818Thr | |
| XM_017000851.1:c.3166G>A | XP_016856340.1:p.Ala1056Thr | |
| XM_017000852.1:c.4144G>A | XP_016856341.1:p.Ala1382Thr | |
| NM_201253.3:c.4009G>A MANE Select | NP_957705.1:p.Ala1337Thr | |
| NM_001193640.2:c.3673G>A | NP_001180569.1:p.Ala1225Thr | |
| NM_001257965.2:c.3937G>A | NP_001244894.1:p.Ala1313Thr | |
| NR_047563.2:n.3962G>A | ||
| NR_047564.2:n.4412G>A | ||
| NM_001257966.2:c.2401G>A | NP_001244895.1:p.Ala801Thr |