Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21043787C>G , CM000664.2:g.21043787C>G | GRCh38 |
| NC_000002.11:g.21266659C>G , CM000664.1:g.21266659C>G | GRCh37 |
| NC_000002.10:g.21120164C>G | NCBI36 |
| NG_011793.1:g.5287G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000384.3:c.82+77G>C MANE Select | NP_000375.3:n.82+77G>C |
| ENST00000233242.5:c.82+77G>C MANE Select | ENSP00000233242.1:n.82+77G>C |
| NM_000384.2:c.82+77G>C | NP_000375.2:n.82+77G>C |
| ENST00000399256.4:c.82+77G>C | ENSP00000382200.4:n.82+77G>C |
| ENST00000616098.4:c.82+77G>C | ENSP00000477990.1:n.82+77G>C |
| ENST00000673739.2:c.82+77G>C | ENSP00000501110.2:n.82+77G>C |
| ENST00000673882.2:c.82+77G>C | ENSP00000501253.2:n.82+77G>C |
| XM_011532809.1:c.82+77G>C | XP_011531111.1:n.82+77G>C |