Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495107C>G , CM000685.2:g.54495107C>G | GRCh38 |
| NC_000023.10:g.54521540C>G , CM000685.1:g.54521540C>G | GRCh37 |
| NC_000023.9:g.54538265C>G | NCBI36 |
| NG_008054.1:g.6060G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.307+19G>C MANE Select | ENSP00000364277.3:n.307+19G>C | |
| ENST00000375135.3:c.307+19G>C | ENSP00000364277.3:n.307+19G>C | |
| NM_004463.2:c.307+19G>C | NP_004454.2:n.307+19G>C | |
| NM_004463.3:c.307+19G>C MANE Select | NP_004454.2:n.307+19G>C |