Linked Data
dbSNP Id:
rs377358917
ExAC:
19:6682037 G / T
gnomAD v2:
19-6682037-G-T
gnomAD v3:
19-6682026-G-T
gnomAD v4:
19-6682026-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682026G>T , CM000681.2:g.6682026G>T | GRCh38 |
| NC_000019.9:g.6682037G>T , CM000681.1:g.6682037G>T | GRCh37 |
| NC_000019.8:g.6633037G>T | NCBI36 |
| NG_009557.1:g.43626C>A , LRG_27:g.43626C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2613C>A | ||
| ENST00000695653.1:c.2174C>A | ENSP00000512084.1:p.Ala725Asp | |
| ENST00000695654.1:c.3290C>A | ENSP00000512085.1:p.Ala1097Asp | |
| ENST00000695689.1:c.236C>A | ENSP00000512101.1:n.236C>A | |
| ENST00000695690.1:n.456C>A | ||
| ENST00000695691.1:n.456C>A | ||
| ENST00000245907.11:c.4265C>A MANE Select | ENSP00000245907.4:p.Ala1422Asp | |
| ENST00000245907.10:c.4265C>A | ENSP00000245907.4:p.Ala1422Asp | |
| ENST00000596548.1:c.386C>A | ENSP00000469744.1:p.Ala129Asp | |
| ENST00000599899.5:n.1224C>A | ||
| ENST00000601008.1:c.242-4068C>A | ENSP00000471384.1:n.242-4068C>A | |
| NM_000064.3:c.4265C>A | NP_000055.2:p.Ala1422Asp | |
| NM_000064.4:c.4265C>A MANE Select | NP_000055.2:p.Ala1422Asp |