gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60938808 (AFR)
Genomes Max Group AF
0.60938808 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64271676G>A , CM000676.2:g.64271676G>A | GRCh38 |
| NC_000014.8:g.64738394G>A , CM000676.1:g.64738394G>A | GRCh37 |
| NC_000014.7:g.63808147G>A | NCBI36 |
| NG_011535.1:g.71875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341099.6:c.536-2765C>T MANE Select | ENSP00000343925.4:n.536-2765C>T | |
| ENST00000267525.10:c.536-2765C>T | ENSP00000267525.6:n.536-2765C>T | |
| ENST00000341099.5:c.536-2765C>T | ENSP00000343925.4:n.536-2765C>T | |
| ENST00000344288.10:c.536-2765C>T | ENSP00000345616.6:n.536-2765C>T | |
| ENST00000353772.7:c.536-2765C>T | ENSP00000335551.4:n.536-2765C>T | |
| ENST00000358599.9:c.536-2765C>T | ENSP00000351412.5:n.536-2765C>T | |
| ENST00000553796.5:c.536-2765C>T | ENSP00000452426.1:n.536-2765C>T | |
| ENST00000554520.1:n.364-2765C>T | ||
| ENST00000554572.5:c.536-2765C>T | ENSP00000450699.1:n.536-2765C>T | |
| ENST00000555278.5:c.536-2765C>T | ENSP00000450488.1:n.536-2765C>T | |
| ENST00000555483.5:n.220-2765C>T | ||
| ENST00000556275.5:c.536-2765C>T | ENSP00000452485.2:n.536-2765C>T | |
| ENST00000557772.5:c.536-2765C>T | ENSP00000451582.1:n.536-2765C>T | |
| NM_001040275.1:c.536-2765C>T | NP_001035365.1:n.536-2765C>T | |
| NM_001214902.1:c.536-2765C>T | NP_001201831.1:n.536-2765C>T | |
| NM_001271876.1:c.536-2765C>T | NP_001258805.1:n.536-2765C>T | |
| NM_001271877.1:c.536-2765C>T | NP_001258806.1:n.536-2765C>T | |
| NM_001291712.1:c.536-2765C>T | NP_001278641.1:n.536-2765C>T | |
| NM_001291723.1:c.536-2765C>T | NP_001278652.1:n.536-2765C>T | |
| NM_001437.2:c.536-2765C>T | NP_001428.1:n.536-2765C>T | |
| NR_073496.1:n.1279-2765C>T | ||
| NR_073497.1:n.453-2765C>T | ||
| XM_011536545.1:c.536-2765C>T | XP_011534847.1:n.536-2765C>T | |
| XM_011536546.1:c.536-2765C>T | XP_011534848.1:n.536-2765C>T | |
| XM_017021079.1:c.536-2765C>T | XP_016876568.1:n.536-2765C>T | |
| XM_017021080.1:c.536-2765C>T | XP_016876569.1:n.536-2765C>T | |
| XM_017021081.1:c.536-2765C>T | XP_016876570.1:n.536-2765C>T | |
| XM_017021082.1:c.536-2765C>T | XP_016876571.1:n.536-2765C>T | |
| XM_017021083.1:c.536-2765C>T | XP_016876572.1:n.536-2765C>T | |
| XM_017021084.1:c.536-2765C>T | XP_016876573.1:n.536-2765C>T | |
| XR_001750187.1:n.1111-2765C>T | ||
| NM_001291712.2:c.536-2765C>T | NP_001278641.1:n.536-2765C>T | |
| NR_073496.2:n.1342-2765C>T | ||
| NM_001437.3:c.536-2765C>T MANE Select | NP_001428.1:n.536-2765C>T |