Linked Data
dbSNP Id:
rs941752148
gnomAD v2:
5-95734647-T-C
gnomAD v3:
5-96398943-T-C
gnomAD v4:
5-96398943-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96398943T>C , CM000667.2:g.96398943T>C | GRCh38 |
| NC_000005.9:g.95734647T>C , CM000667.1:g.95734647T>C | GRCh37 |
| NC_000005.8:g.95760403T>C | NCBI36 |
| NG_021161.1:g.39339A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1524A>G MANE Select | ENSP00000308024.2:p.Gln508= | |
| ENST00000311106.7:c.1524A>G | ENSP00000308024.2:p.Gln508= | |
| ENST00000508626.5:c.1383A>G | ENSP00000421600.1:p.Gln461= | |
| ENST00000513085.1:n.667A>G | ||
| NM_000439.4:c.1524A>G | NP_000430.3:p.Gln508= | |
| NM_001177875.1:c.1383A>G | NP_001171346.1:p.Gln461= | |
| NR_130776.1:n.354+19291T>C | ||
| NM_000439.5:c.1524A>G MANE Select | NP_000430.3:p.Gln508= | |
| NM_001177875.2:c.1383A>G | NP_001171346.1:p.Gln461= |