Linked Data
dbSNP Id:
rs368273443
ExAC:
19:18896947 G / A
gnomAD v2:
19-18896947-G-A
gnomAD v4:
19-18786137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786137G>A , CM000681.2:g.18786137G>A | GRCh38 |
| NC_000019.9:g.18896947G>A , CM000681.1:g.18896947G>A | GRCh37 |
| NC_000019.8:g.18757947G>A | NCBI36 |
| NG_007070.1:g.10168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1317C>T MANE Select | ENSP00000222271.2:p.Asp439= | |
| ENST00000222271.6:c.1317C>T | ENSP00000222271.2:p.Asp439= | |
| ENST00000425807.1:c.1158C>T | ENSP00000403792.1:p.Asp386= | |
| ENST00000542601.6:c.1218C>T | ENSP00000439156.2:p.Asp406= | |
| ENST00000612179.1:n.567C>T | ||
| NM_000095.2:c.1317C>T | NP_000086.2:p.Asp439= | |
| NM_000095.3:c.1317C>T MANE Select | NP_000086.2:p.Asp439= |