Linked Data
dbSNP Id:
rs1893379
gnomAD v2:
18-48718536-G-A
gnomAD v3:
18-51192166-G-A
gnomAD v4:
18-51192166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51192166G>A , CM000680.2:g.51192166G>A | GRCh38 |
| NC_000018.9:g.48718536G>A , CM000680.1:g.48718536G>A | GRCh37 |
| NC_000018.8:g.46972534G>A | NCBI36 |
| NG_015801.1:g.10516C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406189.4:c.754+4401C>T MANE Select | ENSP00000385610.3:n.754+4401C>T | |
| ENST00000591040.2:c.-107-14590C>T | ENSP00000502049.1:n.-107-14590C>T | |
| ENST00000406189.3:c.754+4401C>T | ENSP00000385610.3:n.754+4401C>T | |
| ENST00000591040.1:n.44-14590C>T | ||
| ENST00000616921.1:c.244+4401C>T | ENSP00000482566.1:n.244+4401C>T | |
| NM_016626.4:c.754+4401C>T | NP_057710.3:n.754+4401C>T | |
| NM_016626.5:c.754+4401C>T MANE Select | NP_057710.3:n.754+4401C>T |