Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121263783G= , CM000669.2:g.121263783G= | GRCh38 |
| NC_000007.13:g.120903837G= , CM000669.1:g.120903837G= | GRCh37 |
| NC_000007.12:g.120691073G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310396.10:c.2311-2444G= MANE Select | ENSP00000309772.5:n.2311-2444G= | |
| ENST00000310396.9:c.2311-2444G= | ENSP00000309772.5:n.2311-2444G= | |
| NM_024913.4:c.2311-2444G= | NP_079189.4:n.2311-2444G= | |
| XM_011516583.1:c.2311-2444G= | XP_011514885.1:n.2311-2444G= | |
| XR_927916.1:n.48+2878C= | ||
| XM_024446941.1:c.1798-2444G= | XP_024302709.1:n.1798-2444G= | |
| NM_024913.5:c.2311-2444G= MANE Select | NP_079189.4:n.2311-2444G= |