Linked Data
dbSNP Id:
rs1318917605
gnomAD v2:
5-95751842-A-C
gnomAD v3:
5-96416138-A-C
gnomAD v4:
5-96416138-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416138A>C , CM000667.2:g.96416138A>C | GRCh38 |
| NC_000005.9:g.95751842A>C , CM000667.1:g.95751842A>C | GRCh37 |
| NC_000005.8:g.95777598A>C | NCBI36 |
| NG_021161.1:g.22144T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.621-17T>G MANE Select | ENSP00000308024.2:n.621-17T>G | |
| ENST00000311106.7:c.621-17T>G | ENSP00000308024.2:n.621-17T>G | |
| ENST00000508626.5:c.480-17T>G | ENSP00000421600.1:n.480-17T>G | |
| NM_000439.4:c.621-17T>G | NP_000430.3:n.621-17T>G | |
| NM_001177875.1:c.480-17T>G | NP_001171346.1:n.480-17T>G | |
| NR_130776.1:n.354+36486A>C | ||
| NM_000439.5:c.621-17T>G MANE Select | NP_000430.3:n.621-17T>G | |
| NM_001177875.2:c.480-17T>G | NP_001171346.1:n.480-17T>G |