Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112220919A>G , CM000674.2:g.112220919A>G | GRCh38 |
| NC_000012.11:g.112658723A>G , CM000674.1:g.112658723A>G | GRCh37 |
| NC_000012.10:g.111143106A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682272.1:c.6971-1430T>C MANE Select | ENSP00000507687.1:n.6971-1430T>C | |
| ENST00000377560.9:c.6965-1430T>C | ENSP00000366783.7:n.6965-1430T>C | |
| ENST00000550722.5:c.6569-1430T>C | ENSP00000449784.2:n.6569-1430T>C | |
| ENST00000550968.5:n.205-1430T>C | ||
| NM_001109662.3:c.6569-1430T>C | NP_001103132.3:n.6569-1430T>C | |
| NM_001109662.4:c.7001-1430T>C | NP_001103132.4:n.7001-1430T>C | |
| NM_001388303.1:c.6971-1430T>C MANE Select | NP_001375232.1:n.6971-1430T>C |