gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44793798 (AFR)
Genomes Max Group AF
0.44793798 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66740112C>T , CM000679.2:g.66740112C>T | GRCh38 |
| NC_000017.10:g.64736230C>T , CM000679.1:g.64736230C>T | GRCh37 |
| NC_000017.9:g.62166692C>T | NCBI36 |
| NG_012206.1:g.442305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413366.8:c.1322+1257C>T MANE Select | ENSP00000408695.3:n.1322+1257C>T | |
| ENST00000284384.6:c.1375+1257C>T | ||
| ENST00000413366.7:c.1322+1257C>T | ENSP00000408695.3:n.1322+1257C>T | |
| NM_002737.2:c.1322+1257C>T | NP_002728.1:n.1322+1257C>T | |
| XM_011524989.1:c.1064+1257C>T | XP_011523291.1:n.1064+1257C>T | |
| XM_011524990.1:c.1322+1257C>T | XP_011523292.1:n.1322+1257C>T | |
| XM_017024836.2:c.1322+1257C>T | XP_016880325.1:n.1322+1257C>T | |
| XM_017024837.1:c.1169+1257C>T | XP_016880326.1:n.1169+1257C>T | |
| XM_024450829.1:c.1064+1257C>T | XP_024306597.1:n.1064+1257C>T | |
| XM_024450830.1:c.1064+1257C>T | XP_024306598.1:n.1064+1257C>T | |
| NM_002737.3:c.1322+1257C>T MANE Select | NP_002728.2:n.1322+1257C>T |