gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000369 (AFR)
Genomes Max Group AF
0.00004744 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90894158A>C , CM000677.2:g.90894158A>C | GRCh38 |
| NC_000015.9:g.91437388A>C , CM000677.1:g.91437388A>C | GRCh37 |
| NC_000015.8:g.89238392A>C | NCBI36 |
| NG_029671.1:g.14701A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328850.8:c.2326+100A>C MANE Select | ENSP00000331504.3:n.2326+100A>C | |
| ENST00000328850.7:c.2326+100A>C | ENSP00000331504.3:n.2326+100A>C | |
| ENST00000394300.7:c.2152+100A>C | ENSP00000377837.3:n.2152+100A>C | |
| ENST00000394302.5:c.1903+100A>C | ENSP00000377839.1:n.1903+100A>C | |
| ENST00000414248.6:c.1942+100A>C | ENSP00000414629.2:n.1942+100A>C | |
| ENST00000444422.2:c.2116+100A>C | ENSP00000400868.2:n.2116+100A>C | |
| ENST00000464684.5:c.*609+347A>C | ENSP00000435811.1:n.*609+347A>C | |
| NM_001143783.1:c.2152+100A>C | NP_001137255.1:n.2152+100A>C | |
| NM_001143784.1:c.2116+100A>C | NP_001137256.1:n.2116+100A>C | |
| NM_001143785.1:c.1942+100A>C | NP_001137257.1:n.1942+100A>C | |
| NM_002005.3:c.2326+100A>C | NP_001996.1:n.2326+100A>C | |
| XM_005254880.1:c.2152+100A>C | XP_005254937.1:n.2152+100A>C | |
| XM_005254882.1:c.2116+100A>C | XP_005254939.1:n.2116+100A>C | |
| XM_011521359.1:c.2380+100A>C | XP_011519661.1:n.2380+100A>C | |
| XM_011521360.1:c.2380+100A>C | XP_011519662.1:n.2380+100A>C | |
| XM_011521361.1:c.2206+100A>C | XP_011519663.1:n.2206+100A>C | |
| XM_011521362.1:c.2206+100A>C | XP_011519664.1:n.2206+100A>C | |
| XR_243206.1:n.2263+100A>C | ||
| XM_005254882.2:c.2116+100A>C | XP_005254939.1:n.2116+100A>C | |
| XM_017022005.1:c.2326+100A>C | XP_016877494.1:n.2326+100A>C | |
| XM_017022006.1:c.2152+100A>C | XP_016877495.1:n.2152+100A>C | |
| XM_017022007.1:c.2116+100A>C | XP_016877496.1:n.2116+100A>C | |
| XM_017022008.1:c.1942+100A>C | XP_016877497.1:n.1942+100A>C | |
| XM_017022009.2:c.2326+100A>C | XP_016877498.1:n.2326+100A>C | |
| XM_017022010.1:c.2152+100A>C | XP_016877499.1:n.2152+100A>C | |
| XR_001751142.1:n.2441+100A>C | ||
| XR_001751143.1:n.2231+100A>C | ||
| XR_001751144.2:n.2468+100A>C | ||
| XR_243206.3:n.2258+100A>C | ||
| NM_002005.4:c.2326+100A>C MANE Select | NP_001996.1:n.2326+100A>C | |
| NM_001143785.2:c.1942+100A>C | NP_001137257.1:n.1942+100A>C |