Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957750A>T , CM000669.2:g.142957750A>T | GRCh38 |
| NC_000007.13:g.142654837A>T , CM000669.1:g.142654837A>T | GRCh37 |
| NC_000007.12:g.142364959A>T | NCBI36 |
| NG_007492.1:g.9667T>A | |
| NG_007492.2:g.9667T>A | |
| NG_007492.3:g.9667T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.672+77T>A MANE Select | ENSP00000347409.2:n.672+77T>A | |
| ENST00000355265.6:c.672+77T>A | ENSP00000347409.2:n.672+77T>A | |
| ENST00000476829.5:c.525+554T>A | ENSP00000419889.1:n.525+554T>A | |
| ENST00000479768.6:n.790+77T>A | ||
| ENST00000494148.1:n.271+77T>A | ||
| NM_000420.2:c.672+77T>A | NP_000411.1:n.672+77T>A | |
| XM_005249993.2:c.708+77T>A | XP_005250050.1:n.708+77T>A | |
| NM_000420.3:c.672+77T>A MANE Select | NP_000411.1:n.672+77T>A |