Linked Data
ClinVar Variation Id:
1338
ClinVar RCV Id:
RCV000001401
dbSNP Id:
rs137852833
gnomAD v2:
12-88505097-A-C
gnomAD v3:
12-88111320-A-C
gnomAD v4:
12-88111320-A-C
PubMed:
PMID:16909394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88111320A>C , CM000674.2:g.88111320A>C | GRCh38 |
| NC_000012.11:g.88505097A>C , CM000674.1:g.88505097A>C | GRCh37 |
| NC_000012.10:g.87029228A>C | NCBI36 |
| NG_008417.1:g.35897T>G | |
| NG_008417.2:g.35897T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309041.12:c.2249T>G | ENSP00000308021.8:p.Leu750Ter | |
| ENST00000547926.7:c.*158T>G | ENSP00000448573.3:n.*158T>G | |
| ENST00000552810.6:c.2249T>G MANE Select | ENSP00000448012.1:p.Leu750Ter | |
| ENST00000671822.2:n.3805T>G | ||
| ENST00000672414.2:c.*420T>G | ENSP00000500729.1:n.*420T>G | |
| ENST00000673058.2:c.2249T>G | ENSP00000500665.2:p.Leu750Ter | |
| ENST00000674971.1:c.2249T>G | ENSP00000502194.1:p.Leu750Ter | |
| ENST00000675230.1:c.2228T>G | ENSP00000502503.1:p.Leu743Ter | |
| ENST00000675408.1:c.2249T>G | ENSP00000502298.1:p.Leu750Ter | |
| ENST00000675476.1:c.3110T>G | ENSP00000502161.1:p.Leu1037Ter | |
| ENST00000675628.1:n.2476T>G | ||
| ENST00000675794.1:c.*420T>G | ENSP00000502841.1:n.*420T>G | |
| ENST00000675833.1:c.3017T>G | ENSP00000502559.1:p.Leu1006Ter | |
| ENST00000676074.1:c.2249T>G | ENSP00000502079.1:p.Leu750Ter | |
| ENST00000676363.1:n.4312T>G | ||
| ENST00000676448.1:c.*162T>G | ENSP00000501987.1:n.*162T>G | |
| ENST00000309041.11:c.2255T>G | ENSP00000308021.7:p.Leu752Ter | |
| ENST00000397838.7:c.2255T>G | ENSP00000380938.4:p.Leu752Ter | |
| ENST00000547926.6:c.2004T>G | ENSP00000448573.2:n.2004T>G | |
| ENST00000552810.5:c.2249T>G | ENSP00000448012.1:p.Leu750Ter | |
| ENST00000604024.5:c.1508T>G | ENSP00000473863.1:p.Leu503Ter | |
| NM_025114.3:c.2249T>G | NP_079390.3:p.Leu750Ter | |
| XM_011538756.1:c.3110T>G | XP_011537058.1:p.Leu1037Ter | |
| XM_011538757.1:c.3110T>G | XP_011537059.1:p.Leu1037Ter | |
| XM_011538758.1:c.3110T>G | XP_011537060.1:p.Leu1037Ter | |
| XM_011538759.1:c.3110T>G | XP_011537061.1:p.Leu1037Ter | |
| XM_011538760.1:c.3110T>G | XP_011537062.1:p.Leu1037Ter | |
| XM_011538761.1:c.3110T>G | XP_011537063.1:p.Leu1037Ter | |
| XM_011538762.1:c.2342T>G | XP_011537064.1:p.Leu781Ter | |
| XM_011538763.1:c.2249T>G | XP_011537065.1:p.Leu750Ter | |
| XM_011538764.1:c.3110T>G | XP_011537066.1:p.Leu1037Ter | |
| XM_011538765.1:c.3110T>G | XP_011537067.1:p.Leu1037Ter | |
| XM_011538766.1:c.1571T>G | XP_011537068.1:p.Leu524Ter | |
| XM_011538756.3:c.3110T>G | XP_011537058.1:p.Leu1037Ter | |
| XM_011538757.3:c.3110T>G | XP_011537059.1:p.Leu1037Ter | |
| XM_011538758.3:c.3110T>G | XP_011537060.1:p.Leu1037Ter | |
| XM_011538759.2:c.3110T>G | XP_011537061.1:p.Leu1037Ter | |
| XM_011538760.2:c.3110T>G | XP_011537062.1:p.Leu1037Ter | |
| XM_011538761.2:c.3110T>G | XP_011537063.1:p.Leu1037Ter | |
| XM_011538762.3:c.2342T>G | XP_011537064.1:p.Leu781Ter | |
| XM_011538763.3:c.2249T>G | XP_011537065.1:p.Leu750Ter | |
| XM_011538764.3:c.3110T>G | XP_011537066.1:p.Leu1037Ter | |
| XM_011538765.3:c.3110T>G | XP_011537067.1:p.Leu1037Ter | |
| XM_011538766.3:c.1571T>G | XP_011537068.1:p.Leu524Ter | |
| XM_017019980.2:c.3110T>G | XP_016875469.1:p.Leu1037Ter | |
| XM_017019981.2:c.3110T>G | XP_016875470.1:p.Leu1037Ter | |
| XM_017019982.1:c.3110T>G | XP_016875471.1:p.Leu1037Ter | |
| XM_017019983.2:c.2228T>G | XP_016875472.1:p.Leu743Ter | |
| XR_001748869.1:n.3454T>G | ||
| XR_001748870.2:n.3454T>G | ||
| NM_025114.4:c.2249T>G MANE Select | NP_079390.3:p.Leu750Ter |