Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116372517A= , CM000671.2:g.116372517A= | GRCh38 |
| NC_000009.11:g.119134796A= , CM000671.1:g.119134796A= | GRCh37 |
| NC_000009.10:g.118174617A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328252.4:c.4605+4763A= MANE Select | ENSP00000330658.3:n.4605+4763A= | |
| ENST00000328252.3:c.4605+4763A= | ENSP00000330658.3:n.4605+4763A= | |
| NM_002581.3:c.4605+4763A= | NP_002572.2:n.4605+4763A= | |
| XM_006717129.1:c.2511+4763A= | XP_006717192.1:n.2511+4763A= | |
| NM_002581.4:c.4605+4763A= | NP_002572.2:n.4605+4763A= | |
| XM_006717129.3:c.2511+4763A= | XP_006717192.1:n.2511+4763A= | |
| XM_017014784.2:c.4491+4763A= | XP_016870273.1:n.4491+4763A= | |
| NM_002581.5:c.4605+4763A= MANE Select | NP_002572.2:n.4605+4763A= |