Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154130036T>C , CM000667.2:g.154130036T>C | GRCh38 |
| NC_000005.9:g.153509596T>C , CM000667.1:g.153509596T>C | GRCh37 |
| NC_000005.8:g.153489789T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000518497.5:n.429+8139T>C | |
| ENST00000518497.6:n.429+8139T>C | |
| ENST00000519325.1:n.250-4809T>C | |
| ENST00000519612.5:n.430-4809T>C | |
| ENST00000520327.5:n.293-19830T>C | |
| ENST00000520327.6:n.293-19830T>C | |
| ENST00000521527.5:n.287-4809T>C |