Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869042G>C , CM000664.2:g.240869042G>C | GRCh38 |
| NC_000002.11:g.241808459G>C , CM000664.1:g.241808459G>C | GRCh37 |
| NC_000002.10:g.241457132G>C | NCBI36 |
| NG_008005.1:g.5298G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.165+12G>C MANE Select | NP_000021.1:n.165+12G>C |
| ENST00000307503.4:c.165+12G>C MANE Select | ENSP00000302620.3:n.165+12G>C |
| NM_000030.2:c.165+12G>C | NP_000021.1:n.165+12G>C |
| ENST00000307503.3:c.165+12G>C | ENSP00000302620.3:n.165+12G>C |
| ENST00000472436.1:n.185+12G>C | |
| XR_924060.1:n.405+1191C>G |