Linked Data
dbSNP Id:
rs1056591681
gnomAD v2:
6-396386-A-T
gnomAD v3:
6-396386-A-T
gnomAD v4:
6-396386-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.396386A>T , CM000668.2:g.396386A>T | GRCh38 |
| NC_000006.11:g.396386A>T , CM000668.1:g.396386A>T | GRCh37 |
| NC_000006.10:g.341386A>T | NCBI36 |
| NG_027728.1:g.9648A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493114.2:c.492+451A>T | ENSP00000436094.2:n.492+451A>T | |
| ENST00000696871.1:c.492+451A>T | ENSP00000512940.1:n.492+451A>T | |
| ENST00000696872.1:c.552+451A>T | ENSP00000512941.1:n.552+451A>T | |
| ENST00000696873.1:c.57+451A>T | ENSP00000512942.1:n.57+451A>T | |
| ENST00000380956.9:c.492+451A>T MANE Select | ENSP00000370343.4:n.492+451A>T | |
| ENST00000380956.8:c.492+451A>T | ENSP00000370343.4:n.492+451A>T | |
| ENST00000493114.1:c.492+451A>T | ENSP00000436094.1:n.492+451A>T | |
| ENST00000495137.5:n.318+451A>T | ||
| NM_001195286.1:c.492+451A>T | NP_001182215.1:n.492+451A>T | |
| NM_002460.3:c.492+451A>T | NP_002451.2:n.492+451A>T | |
| NR_046000.2:n.618+451A>T | ||
| XM_006715090.1:c.492+451A>T | XP_006715153.1:n.492+451A>T | |
| XM_006715090.2:c.492+451A>T | XP_006715153.1:n.492+451A>T | |
| NM_002460.4:c.492+451A>T MANE Select | NP_002451.2:n.492+451A>T | |
| NM_001195286.2:c.492+451A>T | NP_001182215.1:n.492+451A>T | |
| NR_046000.3:n.605+451A>T |