Linked Data
dbSNP Id:
rs919462368
gnomAD v2:
18-48718488-T-C
gnomAD v3:
18-51192118-T-C
gnomAD v4:
18-51192118-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51192118T>C , CM000680.2:g.51192118T>C | GRCh38 |
| NC_000018.9:g.48718488T>C , CM000680.1:g.48718488T>C | GRCh37 |
| NC_000018.8:g.46972486T>C | NCBI36 |
| NG_015801.1:g.10564A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406189.4:c.754+4449A>G MANE Select | ENSP00000385610.3:n.754+4449A>G | |
| ENST00000591040.2:c.-107-14542A>G | ENSP00000502049.1:n.-107-14542A>G | |
| ENST00000406189.3:c.754+4449A>G | ENSP00000385610.3:n.754+4449A>G | |
| ENST00000591040.1:n.44-14542A>G | ||
| ENST00000616921.1:c.244+4449A>G | ENSP00000482566.1:n.244+4449A>G | |
| NM_016626.4:c.754+4449A>G | NP_057710.3:n.754+4449A>G | |
| NM_016626.5:c.754+4449A>G MANE Select | NP_057710.3:n.754+4449A>G |