Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120923941C>G , CM000671.2:g.120923941C>G | GRCh38 |
| NC_000009.11:g.123686219C>G , CM000671.1:g.123686219C>G | GRCh37 |
| NC_000009.10:g.122726040C>G | NCBI36 |
| NG_023346.1:g.10233G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005658.5:c.141-149G>C MANE Select | NP_005649.1:n.141-149G>C |
| ENST00000373887.8:c.141-149G>C MANE Select | ENSP00000362994.3:n.141-149G>C |
| NM_001190945.1:c.141-149G>C | NP_001177874.1:n.141-149G>C |
| NM_001190945.2:c.141-149G>C | NP_001177874.1:n.141-149G>C |
| NM_005658.4:c.141-149G>C | NP_005649.1:n.141-149G>C |
| ENST00000373887.7:c.141-149G>C | ENSP00000362994.3:n.141-149G>C |
| ENST00000540010.1:c.141-149G>C | ENSP00000443183.1:n.141-149G>C |