Linked Data
dbSNP Id:
rs1322077669
gnomAD v2:
6-396026-A-G
gnomAD v3:
6-396026-A-G
gnomAD v4:
6-396026-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.396026A>G , CM000668.2:g.396026A>G | GRCh38 |
| NC_000006.11:g.396026A>G , CM000668.1:g.396026A>G | GRCh37 |
| NC_000006.10:g.341026A>G | NCBI36 |
| NG_027728.1:g.9288A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469834.2:n.671A>G | ||
| ENST00000493114.2:c.492+91A>G | ENSP00000436094.2:n.492+91A>G | |
| ENST00000696871.1:c.492+91A>G | ENSP00000512940.1:n.492+91A>G | |
| ENST00000696872.1:c.552+91A>G | ENSP00000512941.1:n.552+91A>G | |
| ENST00000696873.1:c.57+91A>G | ENSP00000512942.1:n.57+91A>G | |
| ENST00000380956.9:c.492+91A>G MANE Select | ENSP00000370343.4:n.492+91A>G | |
| ENST00000380956.8:c.492+91A>G | ENSP00000370343.4:n.492+91A>G | |
| ENST00000468485.5:n.425A>G | ||
| ENST00000493114.1:c.492+91A>G | ENSP00000436094.1:n.492+91A>G | |
| ENST00000495137.5:n.318+91A>G | ||
| NM_001195286.1:c.492+91A>G | NP_001182215.1:n.492+91A>G | |
| NM_002460.3:c.492+91A>G | NP_002451.2:n.492+91A>G | |
| NR_046000.2:n.618+91A>G | ||
| XM_006715090.1:c.492+91A>G | XP_006715153.1:n.492+91A>G | |
| XM_006715090.2:c.492+91A>G | XP_006715153.1:n.492+91A>G | |
| NM_002460.4:c.492+91A>G MANE Select | NP_002451.2:n.492+91A>G | |
| NM_001195286.2:c.492+91A>G | NP_001182215.1:n.492+91A>G | |
| NR_046000.3:n.605+91A>G |