Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993323T>G , CM000678.2:g.30993323T>G | GRCh38 |
| NC_000016.9:g.31004644T>G , CM000678.1:g.31004644T>G | GRCh37 |
| NC_000016.8:g.30912145T>G | NCBI36 |
| NG_041829.1:g.22186A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.675+24A>C MANE Select | ENSP00000215095.5:n.675+24A>C | |
| ENST00000565419.2:c.675+24A>C | ENSP00000455899.1:n.675+24A>C | |
| ENST00000215095.9:c.675+24A>C | ENSP00000215095.5:n.675+24A>C | |
| ENST00000565419.1:c.675+24A>C | ENSP00000455899.1:n.675+24A>C | |
| ENST00000569638.5:c.423+24A>C | ENSP00000457067.1:n.423+24A>C | |
| NM_052874.4:c.675+24A>C | NP_443106.1:n.675+24A>C | |
| XM_017022893.1:c.657+24A>C | XP_016878382.1:n.657+24A>C | |
| NM_052874.5:c.675+24A>C MANE Select | NP_443106.1:n.675+24A>C |