Linked Data
ClinVar Variation Id:
197085
ClinVar RCV Id:
RCV000178010
RCV000268862
RCV000328615
RCV000364677
RCV000265423
RCV000320490
RCV001082773
RCV000712032
RCV001832019
RCV003352794
RCV004528947
dbSNP Id:
rs117370446
ExAC:
12:88472911 G / A
gnomAD v2:
12-88472911-G-A
gnomAD v3:
12-88079134-G-A
gnomAD v4:
12-88079134-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88079134G>A , CM000674.2:g.88079134G>A | GRCh38 |
| NC_000012.11:g.88472911G>A , CM000674.1:g.88472911G>A | GRCh37 |
| NC_000012.10:g.86997042G>A | NCBI36 |
| NG_008417.1:g.68083C>T | |
| NG_008417.2:g.68083C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.5322C>T | ENSP00000308021.8:p.Leu1774= | |
| ENST00000547691.8:c.2606C>T | ||
| ENST00000552810.6:c.5322C>T MANE Select | ENSP00000448012.1:p.Leu1774= | |
| ENST00000672414.2:c.*3493C>T | ENSP00000500729.1:n.*3493C>T | |
| ENST00000672647.1:n.3682C>T | ||
| ENST00000673058.2:c.5322C>T | ENSP00000500665.2:p.Leu1774= | |
| ENST00000674971.1:c.5322C>T | ENSP00000502194.1:p.Leu1774= | |
| ENST00000675230.1:c.5301C>T | ENSP00000502503.1:p.Leu1767= | |
| ENST00000675408.1:c.5322C>T | ENSP00000502298.1:p.Leu1774= | |
| ENST00000675476.1:c.6183C>T | ENSP00000502161.1:p.Leu2061= | |
| ENST00000675628.1:n.5549C>T | ||
| ENST00000675794.1:c.*3493C>T | ENSP00000502841.1:n.*3493C>T | |
| ENST00000675833.1:c.6090C>T | ENSP00000502559.1:p.Leu2030= | |
| ENST00000675894.1:n.1627C>T | ||
| ENST00000676074.1:c.5322C>T | ENSP00000502079.1:p.Leu1774= | |
| ENST00000676181.1:n.4250C>T | ||
| ENST00000676363.1:n.11048C>T | ||
| ENST00000676448.1:c.*3235C>T | ENSP00000501987.1:n.*3235C>T | |
| ENST00000309041.11:c.5328C>T | ENSP00000308021.7:p.Leu1776= | |
| ENST00000547691.6:c.2502C>T | ENSP00000446905.1:p.Leu834= | |
| ENST00000552810.5:c.5322C>T | ENSP00000448012.1:p.Leu1774= | |
| NM_025114.3:c.5322C>T | NP_079390.3:p.Leu1774= | |
| XM_011538756.1:c.6183C>T | XP_011537058.1:p.Leu2061= | |
| XM_011538757.1:c.6183C>T | XP_011537059.1:p.Leu2061= | |
| XM_011538758.1:c.6183C>T | XP_011537060.1:p.Leu2061= | |
| XM_011538759.1:c.6183C>T | XP_011537061.1:p.Leu2061= | |
| XM_011538760.1:c.6183C>T | XP_011537062.1:p.Leu2061= | |
| XM_011538761.1:c.6183C>T | XP_011537063.1:p.Leu2061= | |
| XM_011538762.1:c.5415C>T | XP_011537064.1:p.Leu1805= | |
| XM_011538763.1:c.5322C>T | XP_011537065.1:p.Leu1774= | |
| XM_011538764.1:c.6183C>T | XP_011537066.1:p.Leu2061= | |
| XM_011538765.1:c.6183C>T | XP_011537067.1:p.Leu2061= | |
| XM_011538766.1:c.4644C>T | XP_011537068.1:p.Leu1548= | |
| XR_945163.1:n.968-3179G>A | ||
| XM_011538756.3:c.6183C>T | XP_011537058.1:p.Leu2061= | |
| XM_011538757.3:c.6183C>T | XP_011537059.1:p.Leu2061= | |
| XM_011538758.3:c.6183C>T | XP_011537060.1:p.Leu2061= | |
| XM_011538759.2:c.6183C>T | XP_011537061.1:p.Leu2061= | |
| XM_011538760.2:c.6183C>T | XP_011537062.1:p.Leu2061= | |
| XM_011538761.2:c.6183C>T | XP_011537063.1:p.Leu2061= | |
| XM_011538762.3:c.5415C>T | XP_011537064.1:p.Leu1805= | |
| XM_011538763.3:c.5322C>T | XP_011537065.1:p.Leu1774= | |
| XM_011538764.3:c.6183C>T | XP_011537066.1:p.Leu2061= | |
| XM_011538765.3:c.6183C>T | XP_011537067.1:p.Leu2061= | |
| XM_011538766.3:c.4644C>T | XP_011537068.1:p.Leu1548= | |
| XM_017019980.2:c.6183C>T | XP_016875469.1:p.Leu2061= | |
| XM_017019981.2:c.6183C>T | XP_016875470.1:p.Leu2061= | |
| XM_017019982.1:c.6183C>T | XP_016875471.1:p.Leu2061= | |
| XM_017019983.2:c.5301C>T | XP_016875472.1:p.Leu1767= | |
| XR_001748869.1:n.6527C>T | ||
| XR_001748870.2:n.6527C>T | ||
| NM_025114.4:c.5322C>T MANE Select | NP_079390.3:p.Leu1774= |