Linked Data
ClinVar Variation Id:
56731
ClinVar RCV Id:
RCV000050144
dbSNP Id:
rs386834150
PubMed:
PMID:17564974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88140954A>T , CM000674.2:g.88140954A>T | GRCh38 |
| NC_000012.11:g.88534731A>T , CM000674.1:g.88534731A>T | GRCh37 |
| NC_000012.10:g.87058862A>T | NCBI36 |
| NG_008417.1:g.6263T>A | |
| NG_021187.1:g.3659A>T | |
| NG_008417.2:g.6263T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309041.12:c.180+2T>A | ENSP00000308021.8:n.180+2T>A | |
| ENST00000397838.8:c.180+2T>A | ENSP00000380938.5:n.180+2T>A | |
| ENST00000547926.7:c.180+2T>A | ENSP00000448573.3:n.180+2T>A | |
| ENST00000550962.6:c.180+2T>A | ENSP00000447623.2:n.180+2T>A | |
| ENST00000552770.3:c.180+2T>A | ENSP00000447527.3:n.180+2T>A | |
| ENST00000552810.6:c.180+2T>A MANE Select | ENSP00000448012.1:n.180+2T>A | |
| ENST00000671822.2:n.407+2T>A | ||
| ENST00000672414.2:c.180+2T>A | ENSP00000500729.1:n.180+2T>A | |
| ENST00000673058.2:c.180+2T>A | ENSP00000500665.2:n.180+2T>A | |
| ENST00000674971.1:c.180+2T>A | ENSP00000502194.1:n.180+2T>A | |
| ENST00000675230.1:c.180+2T>A | ENSP00000502503.1:n.180+2T>A | |
| ENST00000675361.1:c.180+2T>A | ENSP00000502678.1:n.180+2T>A | |
| ENST00000675408.1:c.180+2T>A | ENSP00000502298.1:n.180+2T>A | |
| ENST00000675476.1:c.180+2T>A | ENSP00000502161.1:n.180+2T>A | |
| ENST00000675559.1:c.180+2T>A | ENSP00000502163.1:n.180+2T>A | |
| ENST00000675628.1:n.407+2T>A | ||
| ENST00000675794.1:c.180+2T>A | ENSP00000502841.1:n.180+2T>A | |
| ENST00000675833.1:c.180+2T>A | ENSP00000502559.1:n.180+2T>A | |
| ENST00000676074.1:c.180+2T>A | ENSP00000502079.1:n.180+2T>A | |
| ENST00000676331.1:n.407+2T>A | ||
| ENST00000676351.1:c.180+2T>A | ENSP00000502046.1:n.180+2T>A | |
| ENST00000676418.1:c.180+2T>A | ENSP00000502371.1:n.180+2T>A | |
| ENST00000676448.1:c.180+2T>A | ENSP00000501987.1:n.180+2T>A | |
| ENST00000309041.11:c.180+2T>A | ENSP00000308021.7:n.180+2T>A | |
| ENST00000397838.7:c.180+2T>A | ENSP00000380938.4:n.180+2T>A | |
| ENST00000547926.6:c.78+2T>A | ENSP00000448573.2:n.78+2T>A | |
| ENST00000550962.5:c.180+2T>A | ENSP00000447623.1:n.180+2T>A | |
| ENST00000552770.2:c.39+2T>A | ENSP00000447527.2:n.39+2T>A | |
| ENST00000552810.5:c.180+2T>A | ENSP00000448012.1:n.180+2T>A | |
| NM_025114.3:c.180+2T>A | NP_079390.3:n.180+2T>A | |
| XM_011538756.1:c.180+2T>A | XP_011537058.1:n.180+2T>A | |
| XM_011538757.1:c.180+2T>A | XP_011537059.1:n.180+2T>A | |
| XM_011538758.1:c.180+2T>A | XP_011537060.1:n.180+2T>A | |
| XM_011538759.1:c.180+2T>A | XP_011537061.1:n.180+2T>A | |
| XM_011538760.1:c.180+2T>A | XP_011537062.1:n.180+2T>A | |
| XM_011538761.1:c.180+2T>A | XP_011537063.1:n.180+2T>A | |
| XM_011538762.1:c.180+2T>A | XP_011537064.1:n.180+2T>A | |
| XM_011538763.1:c.180+2T>A | XP_011537065.1:n.180+2T>A | |
| XM_011538764.1:c.180+2T>A | XP_011537066.1:n.180+2T>A | |
| XM_011538765.1:c.180+2T>A | XP_011537067.1:n.180+2T>A | |
| XM_011538756.3:c.180+2T>A | XP_011537058.1:n.180+2T>A | |
| XM_011538757.3:c.180+2T>A | XP_011537059.1:n.180+2T>A | |
| XM_011538758.3:c.180+2T>A | XP_011537060.1:n.180+2T>A | |
| XM_011538759.2:c.180+2T>A | XP_011537061.1:n.180+2T>A | |
| XM_011538760.2:c.180+2T>A | XP_011537062.1:n.180+2T>A | |
| XM_011538761.2:c.180+2T>A | XP_011537063.1:n.180+2T>A | |
| XM_011538762.3:c.180+2T>A | XP_011537064.1:n.180+2T>A | |
| XM_011538763.3:c.180+2T>A | XP_011537065.1:n.180+2T>A | |
| XM_011538764.3:c.180+2T>A | XP_011537066.1:n.180+2T>A | |
| XM_011538765.3:c.180+2T>A | XP_011537067.1:n.180+2T>A | |
| XM_017019980.2:c.180+2T>A | XP_016875469.1:n.180+2T>A | |
| XM_017019981.2:c.180+2T>A | XP_016875470.1:n.180+2T>A | |
| XM_017019982.1:c.180+2T>A | XP_016875471.1:n.180+2T>A | |
| XM_017019983.2:c.180+2T>A | XP_016875472.1:n.180+2T>A | |
| XR_001748869.1:n.524+2T>A | ||
| XR_001748870.2:n.524+2T>A | ||
| NM_025114.4:c.180+2T>A MANE Select | NP_079390.3:n.180+2T>A |