gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36314138T>A , CM000684.2:g.36314138T>A | GRCh38 |
| NC_000022.10:g.36710183T>A , CM000684.1:g.36710183T>A | GRCh37 |
| NC_000022.9:g.35040129T>A | NCBI36 |
| NG_011884.2:g.78881A>T , LRG_567:g.78881A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.1768+7A>T | ||
| ENST00000685801.1:c.1554+7A>T | ENSP00000510688.1:n.1554+7A>T | |
| ENST00000691109.1:n.1849+7A>T | ||
| ENST00000691687.1:n.2352+7A>T | ||
| ENST00000692930.1:n.1768+7A>T | ||
| ENST00000216181.11:c.1554+7A>T MANE Select | ENSP00000216181.6:n.1554+7A>T | |
| ENST00000216181.9:c.1554+7A>T | ENSP00000216181.5:n.1554+7A>T | |
| NM_002473.5:c.1554+7A>T , LRG_567t1:c.1554+7A>T | NP_002464.1:n.1554+7A>T | |
| XM_011530197.1:c.1554+7A>T | XP_011528499.1:n.1554+7A>T | |
| XM_011530197.2:c.1554+7A>T | XP_011528499.1:n.1554+7A>T | |
| XM_017028803.1:c.1554+7A>T | XP_016884292.1:n.1554+7A>T | |
| XM_017028804.1:c.1554+7A>T | XP_016884293.1:n.1554+7A>T | |
| XM_017028805.1:c.1554+7A>T | XP_016884294.1:n.1554+7A>T | |
| XM_017028806.1:c.1554+7A>T | XP_016884295.1:n.1554+7A>T | |
| NM_002473.6:c.1554+7A>T MANE Select | NP_002464.1:n.1554+7A>T |