Linked Data
ClinVar Variation Id:
323504
dbSNP Id:
rs886052997
gnomAD v2:
17-42330587-G-A
gnomAD v3:
17-44253219-G-A
gnomAD v4:
17-44253219-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44253219G>A , CM000679.2:g.44253219G>A | GRCh38 |
| NC_000017.10:g.42330587G>A , CM000679.1:g.42330587G>A | GRCh37 |
| NC_000017.9:g.39686113G>A | NCBI36 |
| NG_007498.1:g.19916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2210C>T MANE Select | ENSP00000262418.6:p.Ala737Val | |
| ENST00000262418.10:c.2210C>T | ENSP00000262418.6:p.Ala737Val | |
| ENST00000399246.3:c.1112C>T | ENSP00000382190.3:p.Ala371Val | |
| NM_000342.3:c.2210C>T | NP_000333.1:p.Ala737Val | |
| XM_005257593.3:c.2015C>T | XP_005257650.1:p.Ala672Val | |
| XM_011525129.1:c.2120C>T | XP_011523431.1:p.Ala707Val | |
| XM_011525130.1:c.2210C>T | XP_011523432.1:p.Ala737Val | |
| XM_005257593.5:c.2015C>T | XP_005257650.1:p.Ala672Val | |
| XM_011525129.2:c.2120C>T | XP_011523431.1:p.Ala707Val | |
| NM_000342.4:c.2210C>T MANE Select | NP_000333.1:p.Ala737Val |