Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76968557T>C , CM000667.2:g.76968557T>C | GRCh38 |
| NC_000005.9:g.76264382T>C , CM000667.1:g.76264382T>C | GRCh37 |
| NC_000005.8:g.76300138T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274368.9:c.812-171T>C MANE Select | ENSP00000274368.4:n.812-171T>C | |
| ENST00000274368.8:c.812-171T>C | ENSP00000274368.4:n.812-171T>C | |
| ENST00000503763.1:n.227-171T>C | ||
| ENST00000514258.1:n.311+5097T>C | ||
| NM_001882.3:c.812-171T>C | NP_001873.2:n.812-171T>C | |
| XR_948235.1:n.1111+5097T>C | ||
| XR_948235.3:n.1091+5097T>C | ||
| NM_001882.4:c.812-171T>C MANE Select | NP_001873.2:n.812-171T>C |