gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20865863 (MID)
Genomes Max Group AF
0.17989445 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86791061T>C , CM000669.2:g.86791061T>C | GRCh38 |
| NC_000007.13:g.86420377T>C , CM000669.1:g.86420377T>C | GRCh37 |
| NC_000007.12:g.86258313T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361669.7:c.1324+3945T>C MANE Select | ENSP00000355316.2:n.1324+3945T>C | |
| ENST00000361669.6:c.1324+3945T>C | ENSP00000355316.2:n.1324+3945T>C | |
| ENST00000439827.1:c.1324+3945T>C | ENSP00000398767.1:n.1324+3945T>C | |
| NM_000840.2:c.1324+3945T>C | NP_000831.2:n.1324+3945T>C | |
| XM_011516088.1:c.1324+3945T>C | XP_011514390.1:n.1324+3945T>C | |
| XM_011516089.1:c.1324+3945T>C | XP_011514391.1:n.1324+3945T>C | |
| XM_011516090.1:c.1324+3945T>C | XP_011514392.1:n.1324+3945T>C | |
| XR_927721.1:n.1425+2126A>G | ||
| NM_001363522.1:c.1324+3945T>C | NP_001350451.1:n.1324+3945T>C | |
| XM_017012073.2:c.1325-1987T>C | XP_016867562.1:n.1325-1987T>C | |
| XR_002956570.1:n.90+2126A>G | ||
| XR_002956571.1:n.88+3559A>G | ||
| NM_000840.3:c.1324+3945T>C MANE Select | NP_000831.2:n.1324+3945T>C | |
| NM_001363522.2:c.1324+3945T>C | NP_001350451.1:n.1324+3945T>C |