Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64747113A>G , CM000673.2:g.64747113A>G | GRCh38 |
| NC_000011.9:g.64514585A>G , CM000673.1:g.64514585A>G | GRCh37 |
| NC_000011.8:g.64271161A>G | NCBI36 |
| NG_007574.1:g.3344T>C , LRG_100:g.3344T>C | |
| NG_013018.1:g.18603T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2312+111T>C MANE Select | ENSP00000164139.3:n.2312+111T>C | |
| ENST00000164139.3:c.2312+111T>C | ENSP00000164139.3:n.2312+111T>C | |
| ENST00000377432.7:c.2048+111T>C | ENSP00000366650.3:n.2048+111T>C | |
| ENST00000483742.1:n.1665+111T>C | ||
| NM_001164716.1:c.2048+111T>C | NP_001158188.1:n.2048+111T>C | |
| NM_005609.2:c.2312+111T>C | NP_005600.1:n.2312+111T>C | |
| NM_005609.3:c.2312+111T>C | NP_005600.1:n.2312+111T>C | |
| NM_005609.4:c.2312+111T>C MANE Select | NP_005600.1:n.2312+111T>C |