Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774313T>G , CM000678.2:g.74774313T>G | GRCh38 |
| NC_000016.9:g.74808211T>G , CM000678.1:g.74808211T>G | GRCh37 |
| NC_000016.8:g.73365712T>G | NCBI36 |
| NG_017070.1:g.5519A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.270+173A>C MANE Select | ENSP00000219368.3:n.270+173A>C | |
| ENST00000219368.7:c.270+173A>C | ENSP00000219368.3:n.270+173A>C | |
| ENST00000567683.5:c.270+173A>C | ENSP00000455126.1:n.270+173A>C | |
| NM_024306.4:c.270+173A>C | NP_077282.3:n.270+173A>C | |
| XM_011523317.1:c.270+173A>C | XP_011521619.1:n.270+173A>C | |
| XM_011523318.1:c.270+173A>C | XP_011521620.1:n.270+173A>C | |
| XM_011523317.3:c.270+173A>C | XP_011521619.1:n.270+173A>C | |
| NM_024306.5:c.270+173A>C MANE Select | NP_077282.3:n.270+173A>C |