Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47612921A>T , CM000668.2:g.47612921A>T | GRCh38 |
| NC_000006.11:g.47580657A>T , CM000668.1:g.47580657A>T | GRCh37 |
| NC_000006.10:g.47688616A>T | NCBI36 |
| NG_008878.1:g.140133A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012120.3:c.1878+385A>T MANE Select | NP_036252.1:n.1878+385A>T |
| ENST00000359314.5:c.1878+385A>T MANE Select | ENSP00000352264.5:n.1878+385A>T |
| NM_012120.2:c.1878+385A>T | NP_036252.1:n.1878+385A>T |
| XM_005248976.1:c.1866+385A>T | XP_005249033.1:n.1866+385A>T |
| XM_005248977.2:c.1814+3617A>T | XP_005249034.1:n.1814+3617A>T |
| XM_011514449.1:c.1731+385A>T | XP_011512751.1:n.1731+385A>T |
| XM_011514449.2:c.1731+385A>T | XP_011512751.1:n.1731+385A>T |