gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31317599T>C , CM000675.2:g.31317599T>C | GRCh38 |
| NC_000013.10:g.31891736T>C , CM000675.1:g.31891736T>C | GRCh37 |
| NC_000013.9:g.30789736T>C | NCBI36 |
| NG_011732.1:g.122625T>C | |
| NG_011732.2:g.122625T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343307.5:c.1098T>C MANE Select | ENSP00000343002.4:p.Tyr366= | |
| ENST00000343307.4:c.1098T>C | ENSP00000343002.4:p.Tyr366= | |
| NM_194318.3:c.1098T>C | NP_919299.3:p.Tyr366= | |
| XM_006719768.2:c.1041T>C | XP_006719831.1:p.Tyr347= | |
| XM_011534936.1:c.1065-6152T>C | XP_011533238.1:n.1065-6152T>C | |
| XM_011534937.1:c.978T>C | XP_011533239.1:p.Tyr326= | |
| XM_011534938.1:c.951T>C | XP_011533240.1:p.Tyr317= | |
| XR_941500.1:n.1283T>C | ||
| XR_941501.1:n.1163T>C | ||
| XM_006719768.3:c.1041T>C | XP_006719831.1:p.Tyr347= | |
| XM_011534938.2:c.951T>C | XP_011533240.1:p.Tyr317= | |
| XM_017020395.1:c.951T>C | XP_016875884.1:p.Tyr317= | |
| NM_194318.4:c.1098T>C MANE Select | NP_919299.3:p.Tyr366= |