Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93102579T>G , CM000669.2:g.93102579T>G | GRCh38 |
| NC_000007.13:g.92731892T>G , CM000669.1:g.92731892T>G | GRCh37 |
| NC_000007.12:g.92569828T>G | NCBI36 |
| NG_023419.1:g.20445A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017654.4:c.3519A>C MANE Select | NP_060124.2:p.Arg1173Ser |
| ENST00000379958.3:c.3519A>C MANE Select | ENSP00000369292.2:p.Arg1173Ser |
| NM_001193307.1:c.3519A>C | NP_001180236.1:p.Arg1173Ser |
| NM_001193307.2:c.3519A>C | NP_001180236.1:p.Arg1173Ser |
| NM_017654.3:c.3519A>C | NP_060124.2:p.Arg1173Ser |
| ENST00000379958.2:c.3519A>C | ENSP00000369292.2:p.Arg1173Ser |
| ENST00000446617.1:c.3519A>C | ENSP00000414529.1:p.Arg1173Ser |
| ENST00000620985.4:c.3519A>C | ENSP00000484636.1:p.Arg1173Ser |