Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32854492A>C , CM000668.2:g.32854492A>C | GRCh38 |
| NC_000006.11:g.32822269A>C , CM000668.1:g.32822269A>C | GRCh37 |
| NC_000006.10:g.32930247A>C | NCBI36 |
| NG_011759.1:g.4480T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374859.3:c.60+203A>C MANE Select | ENSP00000363993.2:n.60+203A>C | |
| ENST00000374859.2:c.60+203A>C | ENSP00000363993.2:n.60+203A>C | |
| ENST00000395330.5:c.-9-1646A>C | ENSP00000378739.1:n.-9-1646A>C | |
| ENST00000414474.5:c.-9-1646A>C | ENSP00000394363.1:n.-9-1646A>C | |
| ENST00000464863.1:n.142+203A>C | ||
| NM_002800.4:c.60+203A>C | NP_002791.1:n.60+203A>C | |
| NM_002800.5:c.60+203A>C MANE Select | NP_002791.1:n.60+203A>C |