Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147485934G= , CM000669.2:g.147485934G= | GRCh38 |
| NC_000007.13:g.147183026G= , CM000669.1:g.147183026G= | GRCh37 |
| NC_000007.12:g.146813959G= | NCBI36 |
| NG_007092.2:g.1374574G= | |
| NG_007092.3:g.1374934G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1671-1G= MANE Select | NP_054860.1:n.1671-1G= |
| ENST00000361727.8:c.1671-1G= MANE Select | ENSP00000354778.3:n.1671-1G= |
| NM_014141.5:c.1671-1G= | NP_054860.1:n.1671-1G= |
| ENST00000361727.7:c.1671-1G= | ENSP00000354778.3:n.1671-1G= |
| ENST00000636870.1:n.1533-1G= | |
| ENST00000637694.1:n.1574-1G= | |
| ENST00000637825.1:n.1154-1G= | |
| ENST00000638117.1:n.1574-1G= | |
| XM_006715919.1:c.159-1G= | XP_006715982.1:n.159-1G= |
| XM_017011950.2:c.1671-1G= | XP_016867439.1:n.1671-1G= |