Linked Data
dbSNP Id:
rs1563168162
gnomAD v2:
7-7779421-A-G
gnomAD v3:
7-7739790-A-G
gnomAD v4:
7-7739790-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7739790A>G , CM000669.2:g.7739790A>G | GRCh38 |
| NC_000007.13:g.7779421A>G , CM000669.1:g.7779421A>G | GRCh37 |
| NC_000007.12:g.7745946A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682710.1:c.83-61880A>G MANE Select | ENSP00000507605.1:n.83-61880A>G | |
| ENST00000418534.3:n.601-806T>C | ||
| ENST00000463725.5:n.323-61880A>G | ||
| ENST00000482067.3:n.174-61880A>G | ||
| ENST00000599208.1:n.436-806T>C | ||
| ENST00000628552.1:n.239-806T>C | ||
| ENST00000636849.1:c.83-61880A>G | ENSP00000489648.1:n.83-61880A>G | |
| ENST00000638342.1:c.83-61880A>G | ENSP00000491286.1:n.83-61880A>G | |
| ENST00000639110.1:c.83-61880A>G | ENSP00000491319.1:n.83-61880A>G | |
| ENST00000639343.1:c.263+899A>G | ENSP00000491077.1:n.263+899A>G | |
| NM_001302348.1:c.83-61880A>G | NP_001289277.1:n.83-61880A>G | |
| NM_001302349.1:c.83-61880A>G | NP_001289278.1:n.83-61880A>G | |
| NM_001302350.1:c.-23-61880A>G | NP_001289279.1:n.-23-61880A>G | |
| XR_927014.1:n.182-806T>C | ||
| NM_001302348.2:c.83-61880A>G MANE Select | NP_001289277.1:n.83-61880A>G | |
| NM_001302349.2:c.83-61880A>G | NP_001289278.1:n.83-61880A>G | |
| NM_001302350.2:c.-23-61880A>G | NP_001289279.1:n.-23-61880A>G |