Linked Data
ClinVar Variation Id:
2780660
ClinVar RCV Id:
RCV003659529
dbSNP Id:
rs956723112
gnomAD v4:
9-96235581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235581G>A , CM000671.2:g.96235581G>A | GRCh38 |
| NC_000009.11:g.98997863G>A , CM000671.1:g.98997863G>A | GRCh37 |
| NC_000009.10:g.98037684G>A | NCBI36 |
| NG_008157.1:g.71572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.673-11C>T | ENSP00000364411.2:n.673-11C>T | |
| ENST00000375263.8:c.823-11C>T MANE Select | ENSP00000364412.3:n.823-11C>T | |
| ENST00000463517.2:n.2365-11C>T | ||
| ENST00000464104.6:n.1761-11C>T | ||
| ENST00000467499.6:c.*522-11C>T | ENSP00000498077.1:n.*522-11C>T | |
| ENST00000494814.6:n.373-11C>T | ||
| ENST00000643789.1:c.3115-11C>T | ||
| ENST00000648146.1:c.961-11C>T | ENSP00000497238.1:n.961-11C>T | |
| ENST00000648332.1:c.500-11C>T | ENSP00000497562.1:n.500-11C>T | |
| ENST00000648799.1:c.715-11C>T | ENSP00000498039.1:n.715-11C>T | |
| ENST00000650005.1:c.752-11C>T | ENSP00000498121.1:n.752-11C>T | |
| ENST00000375262.3:c.673-11C>T | ENSP00000364411.2:n.673-11C>T | |
| ENST00000375263.7:c.823-11C>T | ENSP00000364412.3:n.823-11C>T | |
| ENST00000464104.5:n.676-11C>T | ||
| ENST00000467499.5:n.83-11C>T | ||
| ENST00000494814.5:n.382-11C>T | ||
| NM_000197.1:c.823-11C>T | NP_000188.1:n.823-11C>T | |
| XM_005251970.3:c.463-11C>T | XP_005252027.1:n.463-11C>T | |
| XM_011518618.1:c.823-11C>T | XP_011516920.1:n.823-11C>T | |
| XM_011518619.1:c.823-11C>T | XP_011516921.1:n.823-11C>T | |
| XM_011518620.1:c.715-11C>T | XP_011516922.1:n.715-11C>T | |
| NM_000197.2:c.823-11C>T MANE Select | NP_000188.1:n.823-11C>T | |
| XM_011518618.2:c.823-11C>T | XP_011516920.1:n.823-11C>T | |
| XM_011518619.2:c.823-11C>T | XP_011516921.1:n.823-11C>T | |
| XM_017014671.1:c.823-11C>T | XP_016870160.1:n.823-11C>T | |
| XM_017014672.1:c.823-11C>T | XP_016870161.1:n.823-11C>T | |
| XM_017014673.2:c.787-11C>T | XP_016870162.1:n.787-11C>T | |
| XM_017014674.1:c.715-11C>T | XP_016870163.1:n.715-11C>T | |
| XM_017014675.1:c.661-11C>T | XP_016870164.1:n.661-11C>T | |
| XM_017014677.1:c.463-11C>T | XP_016870166.1:n.463-11C>T | |
| XM_024447529.1:c.661-11C>T | XP_024303297.1:n.661-11C>T | |
| XR_002956778.1:n.3295-11C>T |