Linked Data
dbSNP Id:
rs72551325
ExAC:
2:234527044 G / A
gnomAD v2:
2-234527044-G-A
gnomAD v4:
2-233618398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618398G>A , CM000664.2:g.233618398G>A | GRCh38 |
| NC_000002.11:g.234527044G>A , CM000664.1:g.234527044G>A | GRCh37 |
| NC_000002.10:g.234191783G>A | NCBI36 |
| NG_002601.2:g.33655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.691G>A MANE Select | ENSP00000362549.4:p.Ala231Thr | |
| ENST00000373450.4:c.691G>A | ENSP00000362549.4:p.Ala231Thr | |
| NM_019076.4:c.691G>A | NP_061949.3:p.Ala231Thr | |
| NM_019076.5:c.691G>A MANE Select | NP_061949.3:p.Ala231Thr |