Linked Data
dbSNP Id:
rs371055887
ExAC:
10:96701654 G / C
gnomAD v2:
10-96701654-G-C
gnomAD v3:
10-94941897-G-C
gnomAD v4:
10-94941897-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941897G>C , CM000672.2:g.94941897G>C | GRCh38 |
| NC_000010.10:g.96701654G>C , CM000672.1:g.96701654G>C | GRCh37 |
| NC_000010.9:g.96691644G>C | NCBI36 |
| NG_008385.1:g.8240G>C | |
| NG_008385.2:g.8740G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.208G>C MANE Select | ENSP00000260682.6:p.Gly70Arg | |
| ENST00000643112.1:c.208G>C | ENSP00000496202.1:p.Gly70Arg | |
| ENST00000645207.1:n.361G>C | ||
| ENST00000260682.6:c.208G>C | ENSP00000260682.6:p.Gly70Arg | |
| ENST00000461906.1:n.233G>C | ||
| NM_000771.3:c.208G>C | NP_000762.2:p.Gly70Arg | |
| NM_000771.4:c.208G>C MANE Select | NP_000762.2:p.Gly70Arg |