Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148267031A>C , CM000669.2:g.148267031A>C | GRCh38 |
| NC_000007.13:g.147964123A>C , CM000669.1:g.147964123A>C | GRCh37 |
| NC_000007.12:g.147595056A>C | NCBI36 |
| NG_007092.2:g.2155671A>C | |
| NG_007092.3:g.2156031A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.3382-2A>C MANE Select | ENSP00000354778.3:n.3382-2A>C | |
| ENST00000636242.1:n.183-2A>C | ||
| ENST00000636870.1:n.3244-2A>C | ||
| ENST00000637020.1:n.1200-2A>C | ||
| ENST00000361727.7:c.3382-2A>C | ENSP00000354778.3:n.3382-2A>C | |
| ENST00000627772.2:n.1555-2A>C | ||
| ENST00000628930.2:c.559-2A>C | ENSP00000487516.1:n.559-2A>C | |
| NM_014141.5:c.3382-2A>C | NP_054860.1:n.3382-2A>C | |
| XM_006715919.1:c.1870-2A>C | XP_006715982.1:n.1870-2A>C | |
| NM_014141.6:c.3382-2A>C MANE Select | NP_054860.1:n.3382-2A>C |