Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110467101T>C , CM000675.2:g.110467101T>C | GRCh38 |
| NC_000013.10:g.111119448T>C , CM000675.1:g.111119448T>C | GRCh37 |
| NC_000013.9:g.109917449T>C | NCBI36 |
| NG_032137.1:g.164818T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.2095+5T>C MANE Select | NP_001837.2:n.2095+5T>C |
| ENST00000360467.7:c.2095+5T>C MANE Select | ENSP00000353654.5:n.2095+5T>C |
| NM_001846.2:c.2095+5T>C | NP_001837.2:n.2095+5T>C |
| NM_001846.3:c.2095+5T>C | NP_001837.2:n.2095+5T>C |
| ENST00000360467.5:c.2095+5T>C | ENSP00000353654.5:n.2095+5T>C |
| ENST00000494852.2:c.15+5T>C |