Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435784C>G , CM000672.2:g.70435784C>G | GRCh38 |
| NC_000010.10:g.72195540C>G , CM000672.1:g.72195540C>G | GRCh37 |
| NC_000010.9:g.71865546C>G | NCBI36 |
| NG_012448.1:g.10926G>C | |
| NG_012448.2:g.17165G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018055.5:c.393G>C MANE Select | NP_060525.3:p.Arg131= |
| ENST00000287139.8:c.393G>C MANE Select | ENSP00000287139.3:p.Arg131= |
| NM_001329906.1:c.-7G>C | NP_001316835.1:n.-7G>C |
| NM_001329906.2:c.-7G>C | NP_001316835.1:n.-7G>C |
| NM_018055.4:c.393G>C | NP_060525.3:p.Arg131= |
| ENST00000287139.7:c.393G>C | ENSP00000287139.3:p.Arg131= |
| ENST00000414871.1:c.228G>C | ENSP00000394468.1:p.Arg76= |
| XM_024448028.1:c.-7G>C | XP_024303796.1:n.-7G>C |