Linked Data
dbSNP Id:
rs745684184
ExAC:
3:81698108 A / C
gnomAD v2:
3-81698108-A-C
gnomAD v4:
3-81648957-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648957A>C , CM000665.2:g.81648957A>C | GRCh38 |
| NC_000003.11:g.81698108A>C , CM000665.1:g.81698108A>C | GRCh37 |
| NC_000003.10:g.81780798A>C | NCBI36 |
| NG_011810.1:g.117844T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.590T>G MANE Select | ENSP00000410833.2:p.Leu197Arg | |
| ENST00000429644.6:c.590T>G | ENSP00000410833.2:p.Leu197Arg | |
| ENST00000489715.1:c.467T>G | ENSP00000419638.1:p.Leu156Arg | |
| ENST00000498468.1:n.118T>G | ||
| NM_000158.3:c.590T>G | NP_000149.3:p.Leu197Arg | |
| NM_000158.4:c.590T>G MANE Select | NP_000149.4:p.Leu197Arg |