Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33650272A>T , CM000668.2:g.33650272A>T | GRCh38 |
| NC_000006.11:g.33618049A>T , CM000668.1:g.33618049A>T | GRCh37 |
| NC_000006.10:g.33726027A>T | NCBI36 |
| NG_027729.1:g.33894A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.161-5494A>T MANE Select | ENSP00000475177.1:n.161-5494A>T | |
| ENST00000374316.9:c.161-5494A>T | ENSP00000363435.4:n.161-5494A>T | |
| ENST00000605930.2:c.161-5494A>T | ENSP00000475177.1:n.161-5494A>T | |
| NM_002224.3:c.161-5494A>T | NP_002215.2:n.161-5494A>T | |
| XM_011514576.1:c.230-5494A>T | XP_011512878.1:n.230-5494A>T | |
| XM_017010832.1:c.161-5494A>T | XP_016866321.1:n.161-5494A>T | |
| NM_002224.4:c.161-5494A>T MANE Select | NP_002215.2:n.161-5494A>T |