Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145790195C= , CM000663.2:g.145790195C= | GRCh38 |
| NC_000001.10:g.145644886G= , CM000663.1:g.145644886G= | GRCh37 |
| NC_000001.9:g.144356243G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582693.5:c.103-1229G= MANE Select | ENSP00000463650.1:n.103-1229G= | |
| ENST00000582693.4:c.103-1229G= | ENSP00000463650.1:n.103-1229G= | |
| NM_014455.3:c.103-1229G= | NP_055270.1:n.103-1229G= | |
| XM_005272952.3:c.-49-1229G= | XP_005273009.1:n.-49-1229G= | |
| XM_011509419.1:c.103-1229G= | XP_011507721.1:n.103-1229G= | |
| XM_005272952.5:c.-49-1229G= | XP_005273009.1:n.-49-1229G= | |
| XR_001737118.2:n.302-1229G= | ||
| NM_014455.4:c.103-1229G= MANE Select | NP_055270.1:n.103-1229G= |