Linked Data
dbSNP Id:
rs369337840
ExAC:
9:98997877 T / C
gnomAD v2:
9-98997877-T-C
gnomAD v3:
9-96235595-T-C
gnomAD v4:
9-96235595-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235595T>C , CM000671.2:g.96235595T>C | GRCh38 |
| NC_000009.11:g.98997877T>C , CM000671.1:g.98997877T>C | GRCh37 |
| NC_000009.10:g.98037698T>C | NCBI36 |
| NG_008157.1:g.71558A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.673-25A>G | ENSP00000364411.2:n.673-25A>G | |
| ENST00000375263.8:c.823-25A>G MANE Select | ENSP00000364412.3:n.823-25A>G | |
| ENST00000463517.2:n.2365-25A>G | ||
| ENST00000464104.6:n.1761-25A>G | ||
| ENST00000467499.6:c.*522-25A>G | ENSP00000498077.1:n.*522-25A>G | |
| ENST00000494814.6:n.373-25A>G | ||
| ENST00000643789.1:c.3115-25A>G | ||
| ENST00000648146.1:c.961-25A>G | ENSP00000497238.1:n.961-25A>G | |
| ENST00000648332.1:c.500-25A>G | ENSP00000497562.1:n.500-25A>G | |
| ENST00000648799.1:c.715-25A>G | ENSP00000498039.1:n.715-25A>G | |
| ENST00000650005.1:c.752-25A>G | ENSP00000498121.1:n.752-25A>G | |
| ENST00000375262.3:c.673-25A>G | ENSP00000364411.2:n.673-25A>G | |
| ENST00000375263.7:c.823-25A>G | ENSP00000364412.3:n.823-25A>G | |
| ENST00000464104.5:n.676-25A>G | ||
| ENST00000467499.5:n.83-25A>G | ||
| ENST00000494814.5:n.382-25A>G | ||
| NM_000197.1:c.823-25A>G | NP_000188.1:n.823-25A>G | |
| XM_005251970.3:c.463-25A>G | XP_005252027.1:n.463-25A>G | |
| XM_011518618.1:c.823-25A>G | XP_011516920.1:n.823-25A>G | |
| XM_011518619.1:c.823-25A>G | XP_011516921.1:n.823-25A>G | |
| XM_011518620.1:c.715-25A>G | XP_011516922.1:n.715-25A>G | |
| NM_000197.2:c.823-25A>G MANE Select | NP_000188.1:n.823-25A>G | |
| XM_011518618.2:c.823-25A>G | XP_011516920.1:n.823-25A>G | |
| XM_011518619.2:c.823-25A>G | XP_011516921.1:n.823-25A>G | |
| XM_017014671.1:c.823-25A>G | XP_016870160.1:n.823-25A>G | |
| XM_017014672.1:c.823-25A>G | XP_016870161.1:n.823-25A>G | |
| XM_017014673.2:c.787-25A>G | XP_016870162.1:n.787-25A>G | |
| XM_017014674.1:c.715-25A>G | XP_016870163.1:n.715-25A>G | |
| XM_017014675.1:c.661-25A>G | XP_016870164.1:n.661-25A>G | |
| XM_017014677.1:c.463-25A>G | XP_016870166.1:n.463-25A>G | |
| XM_024447529.1:c.661-25A>G | XP_024303297.1:n.661-25A>G | |
| XR_002956778.1:n.3295-25A>G |