Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147562137G>C , CM000669.2:g.147562137G>C | GRCh38 |
| NC_000007.13:g.147259229G>C , CM000669.1:g.147259229G>C | GRCh37 |
| NC_000007.12:g.146890162G>C | NCBI36 |
| NG_007092.2:g.1450777G>C | |
| NG_007092.3:g.1451137G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1778-1G>C MANE Select | NP_054860.1:n.1778-1G>C |
| ENST00000361727.8:c.1778-1G>C MANE Select | ENSP00000354778.3:n.1778-1G>C |
| NM_014141.5:c.1778-1G>C | NP_054860.1:n.1778-1G>C |
| ENST00000361727.7:c.1778-1G>C | ENSP00000354778.3:n.1778-1G>C |
| ENST00000636870.1:n.1640-1G>C | |
| ENST00000637825.1:n.1261-1G>C | |
| ENST00000638117.1:n.1681-1G>C | |
| XM_006715919.1:c.266-1G>C | XP_006715982.1:n.266-1G>C |
| XM_017011950.2:c.1778-1G>C | XP_016867439.1:n.1778-1G>C |