Linked Data
dbSNP Id:
rs766021380
ExAC:
11:57367523 G / A
gnomAD v2:
11-57367523-G-A
gnomAD v4:
11-57600050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57600050G>A , CM000673.2:g.57600050G>A | GRCh38 |
| NC_000011.9:g.57367523G>A , CM000673.1:g.57367523G>A | GRCh37 |
| NC_000011.8:g.57124099G>A | NCBI36 |
| NG_009625.1:g.7497G>A , LRG_105:g.7497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.223G>A MANE Select | ENSP00000278407.4:p.Ala75Thr | |
| ENST00000528996.2:c.58+1722G>A | ENSP00000431226.2:n.58+1722G>A | |
| ENST00000531605.2:c.51+1729G>A | ENSP00000503752.1:n.51+1729G>A | |
| ENST00000619430.2:c.223G>A | ENSP00000478572.2:p.Ala75Thr | |
| ENST00000676670.1:c.223G>A | ENSP00000504807.1:p.Ala75Thr | |
| ENST00000676741.1:n.1305G>A | ||
| ENST00000677275.1:n.210G>A | ||
| ENST00000677624.1:c.223G>A | ENSP00000503979.1:p.Ala75Thr | |
| ENST00000677625.1:c.223G>A | ENSP00000502857.1:p.Ala75Thr | |
| ENST00000677856.1:n.282G>A | ||
| ENST00000677915.1:c.223G>A | ENSP00000503118.1:p.Ala75Thr | |
| ENST00000678533.1:c.51+1729G>A | ENSP00000503873.1:n.51+1729G>A | |
| ENST00000678592.1:c.223G>A | ENSP00000504424.1:p.Ala75Thr | |
| ENST00000278407.8:c.223G>A | ENSP00000278407.4:p.Ala75Thr | |
| ENST00000340687.10:c.223G>A | ENSP00000341861.6:p.Ala75Thr | |
| ENST00000378323.8:c.238G>A | ENSP00000367574.4:p.Ala80Thr | |
| ENST00000378324.6:c.67G>A | ENSP00000367575.2:p.Ala23Thr | |
| ENST00000403558.1:c.325G>A | ENSP00000384420.1:p.Ala109Thr | |
| ENST00000405496.5:c.223G>A | ENSP00000384561.1:p.Ala75Thr | |
| ENST00000457869.1:c.325G>A | ENSP00000399746.1:p.Ala109Thr | |
| ENST00000531133.5:c.51+1729G>A | ENSP00000435431.1:n.51+1729G>A | |
| ENST00000531797.5:c.51+1729G>A | ENSP00000432554.1:n.51+1729G>A | |
| ENST00000619430.1:c.223G>A | ENSP00000478572.1:p.Ala75Thr | |
| NM_000062.2:c.223G>A , LRG_105t1:c.223G>A | NP_000053.2:p.Ala75Thr | |
| NM_001032295.1:c.223G>A | NP_001027466.1:p.Ala75Thr | |
| NM_000062.3:c.223G>A MANE Select | NP_000053.2:p.Ala75Thr | |
| NM_001032295.2:c.223G>A | NP_001027466.1:p.Ala75Thr |