Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55100286C>G , CM000666.2:g.55100286C>G | GRCh38 |
| NC_000004.11:g.55966453C>G , CM000666.1:g.55966453C>G | GRCh37 |
| NC_000004.10:g.55661210C>G | NCBI36 |
| NG_012004.1:g.30310G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.2267-1483G>C MANE Select | NP_002244.1:n.2267-1483G>C |
| ENST00000263923.5:c.2267-1483G>C MANE Select | ENSP00000263923.4:n.2267-1483G>C |
| NM_002253.2:c.2267-1483G>C | NP_002244.1:n.2267-1483G>C |
| NM_002253.3:c.2267-1483G>C | NP_002244.1:n.2267-1483G>C |
| ENST00000263923.4:c.2267-1483G>C | ENSP00000263923.4:n.2267-1483G>C |
| ENST00000647068.1:n.2280-1483G>C |