gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34593894 (AFR)
Genomes Max Group AF
0.34593894 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33782463G>A , CM000663.2:g.33782463G>A | GRCh38 |
| NC_000001.10:g.34248064G>A , CM000663.1:g.34248064G>A | GRCh37 |
| NC_000001.9:g.34020651G>A | NCBI36 |
| NG_053181.1:g.388380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373381.9:c.1663+6137C>T MANE Select | ENSP00000362479.4:n.1663+6137C>T | |
| ENST00000373388.7:c.1543+6137C>T | ENSP00000362486.3:n.1543+6137C>T | |
| ENST00000241312.8:c.1543+6137C>T | ENSP00000241312.4:n.1543+6137C>T | |
| ENST00000338325.1:c.487+6137C>T | ENSP00000340311.1:n.487+6137C>T | |
| ENST00000373381.8:c.1663+6137C>T | ENSP00000362479.4:n.1663+6137C>T | |
| ENST00000373388.6:c.1543+6137C>T | ENSP00000362486.3:n.1543+6137C>T | |
| ENST00000619121.4:c.1543+6137C>T | ENSP00000483463.1:n.1543+6137C>T | |
| NM_001281956.1:c.1663+6137C>T | NP_001268885.1:n.1663+6137C>T | |
| NM_052896.4:c.1543+6137C>T | NP_443128.2:n.1543+6137C>T | |
| XM_011540572.1:c.1663+6137C>T | XP_011538874.1:n.1663+6137C>T | |
| XM_017000185.1:c.1663+6137C>T | XP_016855674.1:n.1663+6137C>T | |
| XM_017000188.1:c.1543+6137C>T | XP_016855677.1:n.1543+6137C>T | |
| XM_017000190.1:c.1112-38857C>T | XP_016855679.1:n.1112-38857C>T | |
| XM_017000191.1:c.1663+6137C>T | XP_016855680.1:n.1663+6137C>T | |
| XM_017000192.1:c.1663+6137C>T | XP_016855681.1:n.1663+6137C>T | |
| XM_017000193.1:c.1663+6137C>T | XP_016855682.1:n.1663+6137C>T | |
| XM_024452878.1:c.1663+6137C>T | XP_024308646.1:n.1663+6137C>T | |
| XR_002959290.1:n.1834+6137C>T | ||
| XR_002959291.1:n.1663+6137C>T | ||
| XR_002959295.1:n.1834+6137C>T | ||
| XR_002959296.1:n.1572+6137C>T | ||
| NM_001281956.2:c.1663+6137C>T MANE Select | NP_001268885.1:n.1663+6137C>T | |
| NM_052896.5:c.1543+6137C>T | NP_443128.2:n.1543+6137C>T |