Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778468A>C , CM000682.2:g.6778468A>C | GRCh38 |
| NC_000020.10:g.6759115A>C , CM000682.1:g.6759115A>C | GRCh37 |
| NC_000020.9:g.6707115A>C | NCBI36 |
| NG_023233.1:g.15371A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001200.4:c.570A>C MANE Select | NP_001191.1:p.Arg190Ser |
| ENST00000378827.5:c.570A>C MANE Select | ENSP00000368104.3:p.Arg190Ser |
| NM_001200.2:c.570A>C | NP_001191.1:p.Arg190Ser |
| NM_001200.3:c.570A>C | NP_001191.1:p.Arg190Ser |
| ENST00000378827.4:c.570A>C | ENSP00000368104.3:p.Arg190Ser |
| XM_011529323.1:c.102A>C | XP_011527625.1:p.Arg34Ser |