gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01878781 (SAS)
Genomes Max Group AF
0.018226 (SAS)
Exomes Max Group AF
0.01865584 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11555384C>T , CM000670.2:g.11555384C>T | GRCh38 |
| NC_000008.10:g.11412893C>T , CM000670.1:g.11412893C>T | GRCh37 |
| NC_000008.9:g.11450302C>T | NCBI36 |
| NG_023543.1:g.66373C>T | |
| NG_023543.2:g.66373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.771-7C>T | ||
| ENST00000696154.1:c.407-7C>T | ENSP00000512445.1:n.407-7C>T | |
| ENST00000259089.9:c.672C>T MANE Select | ENSP00000259089.4:p.Ala224= | |
| ENST00000645242.1:c.459C>T | ENSP00000494690.1:p.Ala153= | |
| ENST00000259089.8:c.672C>T | ENSP00000259089.4:p.Ala224= | |
| ENST00000526778.1:n.469C>T | ||
| ENST00000529894.1:c.459C>T | ENSP00000433663.1:p.Ala153= | |
| NM_001715.2:c.672C>T | NP_001706.2:p.Ala224= | |
| XM_011543824.1:c.672C>T | XP_011542126.1:p.Ala224= | |
| XM_011543825.1:c.672C>T | XP_011542127.1:p.Ala224= | |
| XM_011543826.1:c.672C>T | XP_011542128.1:p.Ala224= | |
| XM_011543827.1:c.459C>T | XP_011542129.1:p.Ala153= | |
| XM_011543828.1:c.672C>T | XP_011542130.1:p.Ala224= | |
| XM_011543829.1:c.672C>T | XP_011542131.1:p.Ala224= | |
| XR_948955.1:n.85+334G>A | ||
| XR_948956.1:n.85+334G>A | ||
| NM_001330465.1:c.459C>T | NP_001317394.1:p.Ala153= | |
| XM_011543825.3:c.672C>T | XP_011542127.1:p.Ala224= | |
| XM_011543828.3:c.672C>T | XP_011542130.1:p.Ala224= | |
| XM_011543829.3:c.672C>T | XP_011542131.1:p.Ala224= | |
| XR_948955.2:n.85+334G>A | ||
| XR_948956.2:n.85+334G>A | ||
| NM_001715.3:c.672C>T MANE Select | NP_001706.2:p.Ala224= | |
| NM_001330465.2:c.459C>T | NP_001317394.1:p.Ala153= |