Linked Data
ClinVar Variation Id:
285879
dbSNP Id:
rs114630940
ExAC:
1:197398711 G / A
gnomAD v2:
1-197398711-G-A
gnomAD v3:
1-197429581-G-A
gnomAD v4:
1-197429581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197429581G>A , CM000663.2:g.197429581G>A | GRCh38 |
| NC_000001.10:g.197398711G>A , CM000663.1:g.197398711G>A | GRCh37 |
| NC_000001.9:g.195665334G>A | NCBI36 |
| NG_008483.1:g.166304G>A | |
| NG_008483.2:g.233120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2809G>A MANE Select | ENSP00000356370.3:p.Ala937Thr | |
| ENST00000638467.1:c.2809G>A | ENSP00000491102.1:p.Ala937Thr | |
| ENST00000681519.1:c.1690G>A | ENSP00000505267.1:p.Ala564Thr | |
| ENST00000367397.1:c.952G>A | ENSP00000356367.1:p.Ala318Thr | |
| ENST00000367399.6:c.2473G>A | ENSP00000356369.2:p.Ala825Thr | |
| ENST00000367400.7:c.2809G>A | ENSP00000356370.3:p.Ala937Thr | |
| ENST00000484075.5:c.2809G>A | ENSP00000433932.1:p.Ala937Thr | |
| ENST00000535699.5:c.2737G>A | ENSP00000438786.1:p.Ala913Thr | |
| ENST00000538660.5:c.2129-6019G>A | ENSP00000438091.1:n.2129-6019G>A | |
| NM_001193640.1:c.2473G>A | NP_001180569.1:p.Ala825Thr | |
| NM_001257965.1:c.2737G>A | NP_001244894.1:p.Ala913Thr | |
| NM_001257966.1:c.2129-6019G>A | NP_001244895.1:n.2129-6019G>A | |
| NM_201253.2:c.2809G>A | NP_957705.1:p.Ala937Thr | |
| NR_047563.1:n.2810G>A | ||
| NR_047564.1:n.3018G>A | ||
| XM_011509365.1:c.2809G>A | XP_011507667.1:p.Ala937Thr | |
| XM_011509366.1:c.2809G>A | XP_011507668.1:p.Ala937Thr | |
| XM_011509367.1:c.2809G>A | XP_011507669.1:p.Ala937Thr | |
| XM_011509368.1:c.2227G>A | XP_011507670.1:p.Ala743Thr | |
| XM_011509369.1:c.1252G>A | XP_011507671.1:p.Ala418Thr | |
| XM_011509365.2:c.2809G>A | XP_011507667.1:p.Ala937Thr | |
| XM_011509369.2:c.1252G>A | XP_011507671.1:p.Ala418Thr | |
| XM_017000851.1:c.1966G>A | XP_016856340.1:p.Ala656Thr | |
| XM_017000852.1:c.2944G>A | XP_016856341.1:p.Ala982Thr | |
| NM_201253.3:c.2809G>A MANE Select | NP_957705.1:p.Ala937Thr | |
| NM_001193640.2:c.2473G>A | NP_001180569.1:p.Ala825Thr | |
| NM_001257965.2:c.2737G>A | NP_001244894.1:p.Ala913Thr | |
| NR_047563.2:n.2762G>A | ||
| NR_047564.2:n.2970G>A | ||
| NM_001257966.2:c.2129-6019G>A | NP_001244895.1:n.2129-6019G>A |