gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00123286 (AFR)
Genomes Max Group AF
0.00143211 (AFR)
Exomes Max Group AF
0.00080031 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19960582T>C , CM000664.2:g.19960582T>C | GRCh38 |
| NC_000002.11:g.20160343T>C , CM000664.1:g.20160343T>C | GRCh37 |
| NC_000002.10:g.20023824T>C | NCBI36 |
| NG_021212.1:g.34542A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.1227A>G MANE Select | ENSP00000281405.5:p.Thr409= | |
| ENST00000345530.8:c.1260A>G MANE Plus Clinical | ENSP00000314444.5:p.Thr420= | |
| ENST00000281405.8:c.1227A>G | ENSP00000281405.4:p.Thr409= | |
| ENST00000345530.7:c.1260A>G | ENSP00000314444.5:p.Thr420= | |
| ENST00000414212.5:c.1260A>G | ENSP00000390802.1:p.Thr420= | |
| ENST00000445063.5:c.731+6142A>G | ||
| NM_001006657.1:c.1260A>G | NP_001006658.1:p.Thr420= | |
| NM_020779.3:c.1227A>G | NP_065830.2:p.Thr409= | |
| XM_011533007.1:c.-18+6142A>G | XP_011531309.1:n.-18+6142A>G | |
| XR_426989.2:n.1260A>G | ||
| XR_939699.1:n.1260A>G | ||
| XM_011533007.2:c.-18+6142A>G | XP_011531309.1:n.-18+6142A>G | |
| XR_001738862.1:n.1260A>G | ||
| XR_426989.3:n.1260A>G | ||
| XR_939699.3:n.1260A>G | ||
| NM_001006657.2:c.1260A>G MANE Plus Clinical | NP_001006658.1:p.Thr420= | |
| NM_020779.4:c.1227A>G MANE Select | NP_065830.2:p.Thr409= |