Linked Data
ClinVar Variation Id:
558191
dbSNP Id:
rs199599175
ExAC:
19:41928179 G / A
gnomAD v2:
19-41928179-G-A
gnomAD v3:
19-41422274-G-A
gnomAD v4:
19-41422274-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422274G>A , CM000681.2:g.41422274G>A | GRCh38 |
| NC_000019.9:g.41928179G>A , CM000681.1:g.41928179G>A | GRCh37 |
| NC_000019.8:g.46620019G>A | NCBI36 |
| NG_013004.1:g.29486G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.757G>A MANE Select | ENSP00000269980.2:p.Ala253Thr | |
| ENST00000269980.6:c.757G>A | ENSP00000269980.2:p.Ala253Thr | |
| ENST00000457836.6:c.691G>A | ENSP00000416000.2:p.Ala231Thr | |
| ENST00000535632.5:n.386G>A | ||
| ENST00000540732.3:c.859G>A | ENSP00000443246.1:p.Ala287Thr | |
| ENST00000542943.5:c.670G>A | ENSP00000440345.1:p.Ala224Thr | |
| ENST00000545787.1:n.385G>A | ||
| ENST00000595085.5:c.757G>A | ENSP00000471150.2:p.Ala253Thr | |
| NM_000709.3:c.757G>A | NP_000700.1:p.Ala253Thr | |
| NM_001164783.1:c.757G>A | NP_001158255.1:p.Ala253Thr | |
| NM_000709.4:c.757G>A MANE Select | NP_000700.1:p.Ala253Thr | |
| NM_001164783.2:c.757G>A | NP_001158255.1:p.Ala253Thr |