Linked Data
dbSNP Id:
rs757829747
ExAC:
2:74372390 C / T
gnomAD v2:
2-74372390-C-T
gnomAD v3:
2-74145263-C-T
gnomAD v4:
2-74145263-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145263C>T , CM000664.2:g.74145263C>T | GRCh38 |
| NC_000002.11:g.74372390C>T , CM000664.1:g.74372390C>T | GRCh37 |
| NC_000002.10:g.74225898C>T | NCBI36 |
| NG_031910.1:g.7650G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.95G>A MANE Select | ENSP00000331369.5:p.Gly32Glu | |
| ENST00000295326.4:c.95G>A | ENSP00000295326.4:p.Gly32Glu | |
| ENST00000327428.9:c.95G>A | ENSP00000331369.5:p.Gly32Glu | |
| ENST00000469676.1:n.1118G>A | ||
| ENST00000477685.5:n.246G>A | ||
| ENST00000484655.1:n.2650G>A | ||
| NM_001035505.1:c.95G>A | NP_001030582.1:p.Gly32Glu | |
| NM_212552.2:c.95G>A | NP_997717.2:p.Gly32Glu | |
| NM_212552.3:c.95G>A MANE Select | NP_997717.2:p.Gly32Glu | |
| NM_001035505.2:c.95G>A | NP_001030582.1:p.Gly32Glu |