Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29313106C>G , CM000684.2:g.29313106C>G | GRCh38 |
| NC_000022.10:g.29709095C>G , CM000684.1:g.29709095C>G | GRCh37 |
| NC_000022.9:g.28039095C>G | NCBI36 |
| NG_032959.1:g.11100C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006477.5:c.*195G>C MANE Select | NP_006468.1:n.*195G>C |
| ENST00000216101.7:c.*195G>C MANE Select | ENSP00000216101.6:n.*195G>C |
| NM_006477.4:c.*195G>C | NP_006468.1:n.*195G>C |
| ENST00000216101.6:c.*195G>C | ENSP00000216101.6:n.*195G>C |
| ENST00000401450.3:c.*753G>C | ENSP00000386095.3:n.*753G>C |
| XM_011529821.1:c.*195G>C | XP_011528123.1:n.*195G>C |
| XM_011529822.1:c.*195G>C | XP_011528124.1:n.*195G>C |
| XM_011529823.1:c.*195G>C | XP_011528125.1:n.*195G>C |