gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07344817 (MID)
Genomes Max Group AF
0.05719914 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.19640584T>C , CM000672.2:g.19640584T>C | GRCh38 |
| NC_000010.10:g.19929513T>C , CM000672.1:g.19929513T>C | GRCh37 |
| NC_000010.9:g.19969519T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454679.7:c.6137+24661T>C MANE Select | ENSP00000412763.3:n.6137+24661T>C | |
| ENST00000377265.3:c.1188+24661T>C | ||
| ENST00000377266.7:c.4207+32682T>C | ENSP00000366477.3:n.4207+32682T>C | |
| ENST00000454679.6:c.6137+24661T>C | ENSP00000412763.3:n.6137+24661T>C | |
| NM_001142308.2:c.6137+24661T>C | NP_001135780.2:n.6137+24661T>C | |
| XM_011519453.1:c.6197+24661T>C | XP_011517755.1:n.6197+24661T>C | |
| XM_011519454.1:c.6116+24661T>C | XP_011517756.1:n.6116+24661T>C | |
| XM_011519455.1:c.6023+24661T>C | XP_011517757.1:n.6023+24661T>C | |
| XM_011519453.2:c.6197+24661T>C | XP_011517755.1:n.6197+24661T>C | |
| XM_011519455.2:c.6023+24661T>C | XP_011517757.1:n.6023+24661T>C | |
| XM_017016182.1:c.5924+24661T>C | XP_016871671.1:n.5924+24661T>C | |
| XM_017016184.1:c.4397+24661T>C | XP_016871673.1:n.4397+24661T>C | |
| XM_017016185.1:c.4397+24661T>C | XP_016871674.1:n.4397+24661T>C | |
| XM_017016186.1:c.2939+24661T>C | XP_016871675.1:n.2939+24661T>C | |
| XR_001747102.1:n.6841+24661T>C | ||
| NM_001142308.3:c.6137+24661T>C MANE Select | NP_001135780.2:n.6137+24661T>C |