ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60663001G>T , CM000679.2:g.60663001G>T | GRCh38 |
| NC_000017.10:g.58740362G>T , CM000679.1:g.58740362G>T | GRCh37 |
| NC_000017.9:g.56095144G>T | NCBI36 |
| NG_023265.1:g.67809G>T , LRG_770:g.67809G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685212.1:c.*932G>T | ENSP00000509022.1:n.*932G>T | |
| ENST00000686064.1:c.912G>T | ||
| ENST00000687355.1:c.1310G>T | ENSP00000509296.1:n.1310G>T | |
| ENST00000688505.1:c.*194G>T | ENSP00000510754.1:n.*194G>T | |
| ENST00000689445.1:c.1106G>T | ||
| ENST00000692386.1:n.1908G>T | ||
| ENST00000693102.1:c.*561G>T | ENSP00000509183.1:n.*561G>T | |
| ENST00000693196.1:c.*769G>T | ENSP00000510177.1:n.*769G>T | |
| ENST00000305921.8:c.1267G>T MANE Select | ENSP00000306682.2:p.Glu423Ter | |
| ENST00000305921.7:c.1267G>T | ENSP00000306682.2:p.Glu423Ter | |
| ENST00000392995.7:c.*85G>T | ENSP00000376720.3:n.*85G>T | |
| NM_003620.3:c.1267G>T , LRG_770t1:c.1267G>T | NP_003611.1:p.Glu423Ter | |
| XR_934577.1:n.1606G>T | ||
| XR_934577.2:n.1606G>T | ||
| NM_003620.4:c.1267G>T MANE Select | NP_003611.1:p.Glu423Ter |