Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55087316G>C , CM000666.2:g.55087316G>C | GRCh38 |
| NC_000004.11:g.55953483G>C , CM000666.1:g.55953483G>C | GRCh37 |
| NC_000004.10:g.55648240G>C | NCBI36 |
| NG_012004.1:g.43280C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.3662+291C>G MANE Select | NP_002244.1:n.3662+291C>G |
| ENST00000263923.5:c.3662+291C>G MANE Select | ENSP00000263923.4:n.3662+291C>G |
| NM_002253.2:c.3662+291C>G | NP_002244.1:n.3662+291C>G |
| NM_002253.3:c.3662+291C>G | NP_002244.1:n.3662+291C>G |
| ENST00000263923.4:c.3662+291C>G | ENSP00000263923.4:n.3662+291C>G |
| ENST00000647068.1:n.3675+291C>G |