Linked Data
ClinVar Variation Id:
1227026
ClinVar RCV Id:
RCV001608900
dbSNP Id:
rs1129055
ExAC:
3:121838319 G / A
gnomAD v2:
3-121838319-G-A
gnomAD v3:
3-122119472-G-A
gnomAD v4:
3-122119472-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122119472G>A , CM000665.2:g.122119472G>A | GRCh38 |
| NC_000003.11:g.121838319G>A , CM000665.1:g.121838319G>A | GRCh37 |
| NC_000003.10:g.123321009G>A | NCBI36 |
| NG_029928.1:g.69111G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330540.7:c.928G>A MANE Select | ENSP00000332049.2:p.Ala310Thr | |
| ENST00000264468.9:c.766G>A | ENSP00000264468.6:p.Ala256Thr | |
| ENST00000330540.6:c.928G>A | ENSP00000332049.2:p.Ala310Thr | |
| ENST00000393627.6:c.910G>A | ENSP00000377248.2:p.Ala304Thr | |
| ENST00000469710.5:c.682G>A | ENSP00000418988.1:p.Ala228Thr | |
| ENST00000478741.1:c.770G>A | ||
| ENST00000493101.5:c.592G>A | ENSP00000420230.1:p.Ala198Thr | |
| NM_001206924.1:c.592G>A | NP_001193853.1:p.Ala198Thr | |
| NM_001206925.1:c.682G>A | NP_001193854.1:p.Ala228Thr | |
| NM_006889.4:c.910G>A | NP_008820.3:p.Ala304Thr | |
| NM_175862.4:c.928G>A | NP_787058.4:p.Ala310Thr | |
| NM_176892.1:c.766G>A | NP_795711.1:p.Ala256Thr | |
| NM_175862.5:c.928G>A MANE Select | NP_787058.5:p.Ala310Thr | |
| NM_001206924.2:c.592G>A | NP_001193853.2:p.Ala198Thr | |
| NM_001206925.2:c.682G>A | NP_001193854.2:p.Ala228Thr | |
| NM_006889.5:c.910G>A | NP_008820.4:p.Ala304Thr | |
| NM_176892.2:c.766G>A | NP_795711.2:p.Ala256Thr |