ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16088894A>C , CM000669.2:g.16088894A>C | GRCh38 |
| NC_000007.13:g.16128519A>C , CM000669.1:g.16128519A>C | GRCh37 |
| NC_000007.12:g.16095044A>C | NCBI36 |
| NG_032690.1:g.337429T>G | |
| NG_032690.2:g.337429T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.*2801T>G MANE Select | ENSP00000385478.2:n.*2801T>G | |
| ENST00000407010.6:c.4157T>G | ENSP00000385478.2:n.4157T>G | |
| NM_001101417.3:c.4007T>G | NP_001094887.1:n.4007T>G | |
| NM_001101426.3:c.4157T>G | NP_001094896.1:n.4157T>G | |
| XM_011515498.1:c.1251+127172T>G | XP_011513800.1:n.1251+127172T>G | |
| NM_001101426.4:c.*2801T>G MANE Select | NP_001094896.1:n.*2801T>G | |
| NM_001101417.4:c.*2801T>G | NP_001094887.1:n.*2801T>G | |
| NM_001368197.1:c.*2801T>G | NP_001355126.1:n.*2801T>G | |
| NR_160656.1:n.4222T>G |