Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816234C>T , CM000681.2:g.4816234C>T | GRCh38 |
| NC_000019.9:g.4816246C>T , CM000681.1:g.4816246C>T | GRCh37 |
| NC_000019.8:g.4767246C>T | NCBI36 |
| NG_031998.1:g.20509G>A , LRG_358:g.20509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.*5G>A MANE Select | ENSP00000248244.4:n.*5G>A | |
| ENST00000248244.5:c.*5G>A | ENSP00000248244.4:n.*5G>A | |
| NM_182919.3:c.*5G>A , LRG_358t1:c.*5G>A | NP_891549.1:n.*5G>A | |
| NM_001385678.1:c.*5G>A | NP_001372607.1:n.*5G>A | |
| NM_001385679.1:c.*5G>A | NP_001372608.1:n.*5G>A | |
| NM_001385680.1:c.*5G>A | NP_001372609.1:n.*5G>A | |
| NM_182919.4:c.*5G>A MANE Select | NP_891549.1:n.*5G>A |