gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00463571 (AFR)
Genomes Max Group AF
0.00479091 (AFR)
Exomes Max Group AF
0.00406937 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21016492G>C , CM000664.2:g.21016492G>C | GRCh38 |
| NC_000002.11:g.21239364G>C , CM000664.1:g.21239364G>C | GRCh37 |
| NC_000002.10:g.21092869G>C | NCBI36 |
| NG_011793.1:g.32582C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2585C>G | ENSP00000501110.2:n.*2585C>G | |
| ENST00000673882.2:c.*2428-947C>G | ENSP00000501253.2:n.*2428-947C>G | |
| ENST00000673739.1:c.2993C>G | ENSP00000501110.1:n.2993C>G | |
| ENST00000673882.1:c.2836-947C>G | ENSP00000501253.1:n.2836-947C>G | |
| ENST00000233242.5:c.3279C>G MANE Select | ENSP00000233242.1:p.Thr1093= | |
| ENST00000616098.4:c.3279C>G | ENSP00000477990.1:p.Thr1093= | |
| NM_000384.2:c.3279C>G | NP_000375.2:p.Thr1093= | |
| XM_011532809.1:c.3279C>G | XP_011531111.1:p.Thr1093= | |
| NM_000384.3:c.3279C>G MANE Select | NP_000375.3:p.Thr1093= |