Linked Data
dbSNP Id:
rs3740057
gnomAD v2:
10-101658585-T-C
gnomAD v3:
10-99898828-T-C
gnomAD v4:
10-99898828-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99898828T>C , CM000672.2:g.99898828T>C | GRCh38 |
| NC_000010.10:g.101658585T>C , CM000672.1:g.101658585T>C | GRCh37 |
| NC_000010.9:g.101648575T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324109.9:c.2703-68A>G MANE Select | ENSP00000315659.4:n.2703-68A>G | |
| ENST00000543621.6:c.567-68A>G | ENSP00000443657.2:n.567-68A>G | |
| ENST00000636706.1:c.1599-68A>G | ENSP00000489875.1:n.1599-68A>G | |
| ENST00000324109.8:c.2703-68A>G | ENSP00000315659.4:n.2703-68A>G | |
| ENST00000422692.1:c.567-68A>G | ENSP00000409476.1:n.567-68A>G | |
| ENST00000543621.5:c.441-68A>G | ENSP00000443657.1:n.441-68A>G | |
| NM_015221.2:c.2703-68A>G | NP_056036.1:n.2703-68A>G | |
| XM_006717735.2:c.2703-68A>G | XP_006717798.1:n.2703-68A>G | |
| XM_006717736.2:c.2703-68A>G | XP_006717799.1:n.2703-68A>G | |
| XM_011539559.1:c.2703-68A>G | XP_011537861.1:n.2703-68A>G | |
| XM_011539560.1:c.1599-68A>G | XP_011537862.1:n.1599-68A>G | |
| NM_001318326.1:c.1599-68A>G | NP_001305255.1:n.1599-68A>G | |
| NM_001318327.1:c.567-68A>G | NP_001305256.1:n.567-68A>G | |
| NM_015221.3:c.2703-68A>G | NP_056036.1:n.2703-68A>G | |
| XM_006717735.3:c.2703-68A>G | XP_006717798.1:n.2703-68A>G | |
| XM_011539559.2:c.2703-68A>G | XP_011537861.1:n.2703-68A>G | |
| NM_015221.4:c.2703-68A>G MANE Select | NP_056036.1:n.2703-68A>G | |
| NM_001318326.2:c.1599-68A>G | NP_001305255.1:n.1599-68A>G |