Linked Data
ClinVar Variation Id:
461787
dbSNP Id:
rs766670248
ExAC:
12:88454772 C / T
gnomAD v2:
12-88454772-C-T
gnomAD v3:
12-88060995-C-T
gnomAD v4:
12-88060995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88060995C>T , CM000674.2:g.88060995C>T | GRCh38 |
| NC_000012.11:g.88454772C>T , CM000674.1:g.88454772C>T | GRCh37 |
| NC_000012.10:g.86978903C>T | NCBI36 |
| NG_008417.1:g.86222G>A | |
| NG_008417.2:g.86222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6367-1G>A | ENSP00000308021.8:n.6367-1G>A | |
| ENST00000547691.8:c.3642-1G>A | ||
| ENST00000552810.6:c.6358-1G>A MANE Select | ENSP00000448012.1:n.6358-1G>A | |
| ENST00000671777.2:n.137-1G>A | ||
| ENST00000672414.2:c.*4529-975G>A | ENSP00000500729.1:n.*4529-975G>A | |
| ENST00000672647.1:n.4718-1G>A | ||
| ENST00000673058.2:c.6358-1G>A | ENSP00000500665.2:n.6358-1G>A | |
| ENST00000674889.1:n.3311-1G>A | ||
| ENST00000674971.1:c.6358-1G>A | ENSP00000502194.1:n.6358-1G>A | |
| ENST00000675230.1:c.6337-1G>A | ENSP00000502503.1:n.6337-1G>A | |
| ENST00000675408.1:c.6358-975G>A | ENSP00000502298.1:n.6358-975G>A | |
| ENST00000675476.1:c.7219-1G>A | ENSP00000502161.1:n.7219-1G>A | |
| ENST00000675628.1:n.6585-1G>A | ||
| ENST00000675794.1:c.*4529-1G>A | ENSP00000502841.1:n.*4529-1G>A | |
| ENST00000675833.1:c.7126-1G>A | ENSP00000502559.1:n.7126-1G>A | |
| ENST00000675894.1:n.2663-1G>A | ||
| ENST00000676074.1:c.6358-975G>A | ENSP00000502079.1:n.6358-975G>A | |
| ENST00000676181.1:n.5286-1G>A | ||
| ENST00000676190.1:n.797-1G>A | ||
| ENST00000676363.1:n.12084-1G>A | ||
| ENST00000309041.11:c.6364-1G>A | ENSP00000308021.7:n.6364-1G>A | |
| ENST00000547691.6:c.3538-1G>A | ENSP00000446905.1:n.3538-1G>A | |
| ENST00000552810.5:c.6358-1G>A | ENSP00000448012.1:n.6358-1G>A | |
| NM_025114.3:c.6358-1G>A | NP_079390.3:n.6358-1G>A | |
| XM_011538756.1:c.7228-1G>A | XP_011537058.1:n.7228-1G>A | |
| XM_011538757.1:c.7228-1G>A | XP_011537059.1:n.7228-1G>A | |
| XM_011538758.1:c.7225-1G>A | XP_011537060.1:n.7225-1G>A | |
| XM_011538759.1:c.7219-1G>A | XP_011537061.1:n.7219-1G>A | |
| XM_011538760.1:c.7228-1G>A | XP_011537062.1:n.7228-1G>A | |
| XM_011538761.1:c.7228-975G>A | XP_011537063.1:n.7228-975G>A | |
| XM_011538762.1:c.6460-1G>A | XP_011537064.1:n.6460-1G>A | |
| XM_011538763.1:c.6367-1G>A | XP_011537065.1:n.6367-1G>A | |
| XM_011538766.1:c.5689-1G>A | XP_011537068.1:n.5689-1G>A | |
| XR_945163.1:n.967+3975C>T | ||
| XM_011538756.3:c.7228-1G>A | XP_011537058.1:n.7228-1G>A | |
| XM_011538757.3:c.7228-1G>A | XP_011537059.1:n.7228-1G>A | |
| XM_011538758.3:c.7225-1G>A | XP_011537060.1:n.7225-1G>A | |
| XM_011538759.2:c.7219-1G>A | XP_011537061.1:n.7219-1G>A | |
| XM_011538760.2:c.7228-1G>A | XP_011537062.1:n.7228-1G>A | |
| XM_011538761.2:c.7228-975G>A | XP_011537063.1:n.7228-975G>A | |
| XM_011538762.3:c.6460-1G>A | XP_011537064.1:n.6460-1G>A | |
| XM_011538763.3:c.6367-1G>A | XP_011537065.1:n.6367-1G>A | |
| XM_011538766.3:c.5689-1G>A | XP_011537068.1:n.5689-1G>A | |
| XM_017019980.2:c.7219-1G>A | XP_016875469.1:n.7219-1G>A | |
| XM_017019981.2:c.7219-975G>A | XP_016875470.1:n.7219-975G>A | |
| XM_017019982.1:c.7228-1G>A | XP_016875471.1:n.7228-1G>A | |
| XM_017019983.2:c.6346-1G>A | XP_016875472.1:n.6346-1G>A | |
| XR_001748869.1:n.7563-1G>A | ||
| XR_001748870.2:n.7563-975G>A | ||
| NM_025114.4:c.6358-1G>A MANE Select | NP_079390.3:n.6358-1G>A |