Linked Data
dbSNP Id:
rs765334726
ExAC:
1:159856340 T / C
gnomAD v2:
1-159856340-T-C
gnomAD v4:
1-159886550-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886550T>C , CM000663.2:g.159886550T>C | GRCh38 |
| NC_000001.10:g.159856340T>C , CM000663.1:g.159856340T>C | GRCh37 |
| NC_000001.9:g.158122964T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.728A>G MANE Select | ENSP00000357079.4:p.Gln243Arg | |
| ENST00000368099.8:c.728A>G | ENSP00000357079.4:p.Gln243Arg | |
| ENST00000426543.6:c.473A>G | ENSP00000403044.2:p.Gln158Arg | |
| ENST00000476696.5:c.728A>G | ENSP00000483972.1:p.Gln243Arg | |
| NM_012337.2:c.728A>G | NP_036469.2:p.Gln243Arg | |
| NM_012337.3:c.728A>G MANE Select | NP_036469.2:p.Gln243Arg |