Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100646701C>T , CM000669.2:g.100646701C>T | GRCh38 |
| NC_000007.13:g.100244324C>T , CM000669.1:g.100244324C>T | GRCh37 |
| NC_000007.12:g.100082260C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.1017+50G>A MANE Select | ENSP00000160382.5:n.1017+50G>A | |
| ENST00000160382.9:c.1017+50G>A | ENSP00000160382.5:n.1017+50G>A | |
| ENST00000487125.1:n.579+50G>A | ||
| NM_016188.4:c.1017+50G>A | NP_057272.1:n.1017+50G>A | |
| XR_927476.1:n.1124+50G>A | ||
| NR_134539.1:n.1124+50G>A | ||
| NM_016188.5:c.1017+50G>A MANE Select | NP_057272.1:n.1017+50G>A | |
| NR_134539.2:n.1111+50G>A |