Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188993464G>A , CM000664.2:g.188993464G>A | GRCh38 |
| NC_000002.11:g.189858190G>A , CM000664.1:g.189858190G>A | GRCh37 |
| NC_000002.10:g.189566435G>A | NCBI36 |
| NG_007404.1:g.24092G>A , LRG_3:g.24092G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.1050+524G>A | ENSP00000415346.2:n.1050+524G>A | |
| ENST00000304636.9:c.1149+5G>A MANE Select | ENSP00000304408.4:n.1149+5G>A | |
| ENST00000304636.7:c.1149+5G>A | ENSP00000304408.3:n.1149+5G>A | |
| ENST00000317840.9:c.1149+5G>A | ENSP00000315243.6:n.1149+5G>A | |
| ENST00000450867.1:c.148+524G>A | ||
| NM_000090.3:c.1149+5G>A , LRG_3t1:c.1149+5G>A | NP_000081.1:n.1149+5G>A | |
| NM_000090.4:c.1149+5G>A MANE Select | NP_000081.2:n.1149+5G>A |