gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30271607 (AFR)
Genomes Max Group AF
0.29872073 (AFR)
Exomes Max Group AF
0.30491489 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102612664T>A , CM000666.2:g.102612664T>A | GRCh38 |
| NC_000004.11:g.103533821T>A , CM000666.1:g.103533821T>A | GRCh37 |
| NC_000004.10:g.103752867T>A | NCBI36 |
| NG_050628.1:g.116336T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.2616+58T>A | ENSP00000426147.2:n.2616+58T>A | |
| ENST00000509165.2:c.2592+58T>A | ENSP00000423877.2:n.2592+58T>A | |
| ENST00000697794.1:c.*2233+58T>A | ENSP00000513443.1:n.*2233+58T>A | |
| ENST00000697799.1:n.2089+58T>A | ||
| ENST00000697801.1:n.793+58T>A | ||
| ENST00000697803.1:n.158+58T>A | ||
| ENST00000698233.1:n.2321+58T>A | ||
| ENST00000226574.9:c.2592+58T>A MANE Select | ENSP00000226574.4:n.2592+58T>A | |
| ENST00000652569.1:c.2568+58T>A | ||
| ENST00000652619.1:c.*1119+58T>A | ENSP00000499031.1:n.*1119+58T>A | |
| ENST00000226574.8:c.2592+58T>A | ENSP00000226574.4:n.2592+58T>A | |
| ENST00000394820.8:c.2589+58T>A | ENSP00000378297.4:n.2589+58T>A | |
| ENST00000505458.5:c.2589+58T>A | ENSP00000424790.1:n.2589+58T>A | |
| ENST00000600343.5:c.2049+58T>A | ENSP00000469340.1:n.2049+58T>A | |
| NM_001165412.1:c.2589+58T>A | NP_001158884.1:n.2589+58T>A | |
| NM_003998.3:c.2592+58T>A | NP_003989.2:n.2592+58T>A | |
| XM_011532006.1:c.2613+58T>A | XP_011530308.1:n.2613+58T>A | |
| XM_011532007.1:c.2589+58T>A | XP_011530309.1:n.2589+58T>A | |
| XM_011532008.1:c.2433+58T>A | XP_011530310.1:n.2433+58T>A | |
| XM_011532009.1:c.2196+58T>A | XP_011530311.1:n.2196+58T>A | |
| XR_939025.1:n.2384+1224A>T | ||
| XR_939026.1:n.2384+1224A>T | ||
| XR_939027.1:n.2384+1224A>T | ||
| NM_001319226.1:c.2589+58T>A | NP_001306155.1:n.2589+58T>A | |
| XM_011532006.2:c.2613+58T>A | XP_011530308.1:n.2613+58T>A | |
| XM_024454067.1:c.2616+58T>A | XP_024309835.1:n.2616+58T>A | |
| XM_024454068.1:c.2592+58T>A | XP_024309836.1:n.2592+58T>A | |
| XM_024454069.1:c.2457+58T>A | XP_024309837.1:n.2457+58T>A | |
| XR_001741780.1:n.2384+1224A>T | ||
| XR_001741781.2:n.1553+2055A>T | ||
| XR_939025.3:n.2384+1224A>T | ||
| XR_939026.3:n.2384+1224A>T | ||
| NM_003998.4:c.2592+58T>A MANE Select | NP_003989.2:n.2592+58T>A | |
| NM_001165412.2:c.2589+58T>A | NP_001158884.1:n.2589+58T>A | |
| NM_001319226.2:c.2589+58T>A | NP_001306155.1:n.2589+58T>A | |
| NM_001382625.1:c.2592+58T>A | NP_001369554.1:n.2592+58T>A | |
| NM_001382626.1:c.2592+58T>A | NP_001369555.1:n.2592+58T>A | |
| NM_001382627.1:c.2589+58T>A | NP_001369556.1:n.2589+58T>A | |
| NM_001382628.1:c.2550+58T>A | NP_001369557.1:n.2550+58T>A |