Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114804733C>T , CM000671.2:g.114804733C>T | GRCh38 |
| NC_000009.11:g.117567013C>T , CM000671.1:g.117567013C>T | GRCh37 |
| NC_000009.10:g.116606834C>T | NCBI36 |
| NG_011488.2:g.6396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.210+1070G>A MANE Select | ENSP00000363157.3:n.210+1070G>A | |
| ENST00000374045.4:c.210+1070G>A | ENSP00000363157.3:n.210+1070G>A | |
| NM_005118.3:c.210+1070G>A | NP_005109.2:n.210+1070G>A | |
| NM_005118.4:c.210+1070G>A MANE Select | NP_005109.2:n.210+1070G>A |