Linked Data
dbSNP Id:
rs1209429749
gnomAD v2:
1-162085425-A-G
gnomAD v3:
1-162115635-A-G
gnomAD v4:
1-162115635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162115635A>G , CM000663.2:g.162115635A>G | GRCh38 |
| NC_000001.10:g.162085425A>G , CM000663.1:g.162085425A>G | GRCh37 |
| NC_000001.9:g.160352049A>G | NCBI36 |
| NG_015979.1:g.50845A>G | |
| NG_015979.2:g.50845A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.106-38770A>G MANE Select | ENSP00000355133.5:n.106-38770A>G | |
| ENST00000361897.9:c.106-38770A>G | ENSP00000355133.5:n.106-38770A>G | |
| ENST00000430120.3:c.106-38770A>G | ENSP00000396713.3:n.106-38770A>G | |
| ENST00000530878.5:c.106-38770A>G | ENSP00000431586.1:n.106-38770A>G | |
| NM_001164757.1:c.106-38770A>G | NP_001158229.1:n.106-38770A>G | |
| NM_014697.2:c.106-38770A>G | NP_055512.1:n.106-38770A>G | |
| XR_922217.1:n.884-1733T>C | ||
| XR_922219.1:n.713-1733T>C | ||
| XR_922221.1:n.713-8887T>C | ||
| XR_002958375.1:n.3842-1733T>C | ||
| XR_002958378.1:n.3671-1733T>C | ||
| NM_014697.3:c.106-38770A>G MANE Select | NP_055512.1:n.106-38770A>G | |
| NM_001164757.2:c.106-38770A>G | NP_001158229.1:n.106-38770A>G |