Linked Data
ClinVar Variation Id:
241587
dbSNP Id:
rs572443869
ExAC:
12:88449443 A / G
gnomAD v2:
12-88449443-A-G
gnomAD v3:
12-88055666-A-G
gnomAD v4:
12-88055666-A-G
MyVariant Identifiers:
chr12:g.88449443A>G (hg19)
chr12:g.88449443_88449444delinsGT (hg19)
chr12:g.88055666A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88055666A>G , CM000674.2:g.88055666A>G | GRCh38 |
| NC_000012.11:g.88449443A>G , CM000674.1:g.88449443A>G | GRCh37 |
| NC_000012.10:g.86973574A>G | NCBI36 |
| NG_008417.1:g.91551T>C | |
| NG_008417.2:g.91551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6879T>C | ENSP00000308021.8:p.Asn2293= | |
| ENST00000547691.8:c.3930-1253T>C | ||
| ENST00000552810.6:c.6870T>C MANE Select | ENSP00000448012.1:p.Asn2290= | |
| ENST00000671777.2:n.649T>C | ||
| ENST00000672414.2:c.*4876T>C | ENSP00000500729.1:n.*4876T>C | |
| ENST00000672647.1:n.5230T>C | ||
| ENST00000673058.2:c.6747T>C | ENSP00000500665.2:p.Asn2249= | |
| ENST00000674712.1:n.397T>C | ||
| ENST00000674889.1:n.3823T>C | ||
| ENST00000674971.1:c.6870T>C | ENSP00000502194.1:p.Asn2290= | |
| ENST00000675230.1:c.6849T>C | ENSP00000502503.1:p.Asn2283= | |
| ENST00000675408.1:c.6705T>C | ENSP00000502298.1:p.Asn2235= | |
| ENST00000675476.1:c.7731T>C | ENSP00000502161.1:p.Asn2577= | |
| ENST00000675628.1:n.7097T>C | ||
| ENST00000675794.1:c.*5041T>C | ENSP00000502841.1:n.*5041T>C | |
| ENST00000675833.1:c.7638T>C | ENSP00000502559.1:p.Asn2546= | |
| ENST00000675894.1:n.3175T>C | ||
| ENST00000676074.1:c.6705T>C | ENSP00000502079.1:p.Asn2235= | |
| ENST00000676181.1:n.5798T>C | ||
| ENST00000676190.1:n.1309T>C | ||
| ENST00000676363.1:n.12596T>C | ||
| ENST00000309041.11:c.6876T>C | ENSP00000308021.7:p.Asn2292= | |
| ENST00000547691.6:c.4050T>C | ENSP00000446905.1:p.Asn1350= | |
| ENST00000552810.5:c.6870T>C | ENSP00000448012.1:p.Asn2290= | |
| NM_025114.3:c.6870T>C | NP_079390.3:p.Asn2290= | |
| XM_011538756.1:c.7740T>C | XP_011537058.1:p.Asn2580= | |
| XM_011538757.1:c.7740T>C | XP_011537059.1:p.Asn2580= | |
| XM_011538758.1:c.7737T>C | XP_011537060.1:p.Asn2579= | |
| XM_011538759.1:c.7731T>C | XP_011537061.1:p.Asn2577= | |
| XM_011538760.1:c.7617T>C | XP_011537062.1:p.Asn2539= | |
| XM_011538761.1:c.7575T>C | XP_011537063.1:p.Asn2525= | |
| XM_011538762.1:c.6972T>C | XP_011537064.1:p.Asn2324= | |
| XM_011538763.1:c.6879T>C | XP_011537065.1:p.Asn2293= | |
| XM_011538766.1:c.6201T>C | XP_011537068.1:p.Asn2067= | |
| XR_945163.1:n.853+394A>G | ||
| XM_011538756.3:c.7740T>C | XP_011537058.1:p.Asn2580= | |
| XM_011538757.3:c.7740T>C | XP_011537059.1:p.Asn2580= | |
| XM_011538758.3:c.7737T>C | XP_011537060.1:p.Asn2579= | |
| XM_011538759.2:c.7731T>C | XP_011537061.1:p.Asn2577= | |
| XM_011538760.2:c.7617T>C | XP_011537062.1:p.Asn2539= | |
| XM_011538761.2:c.7575T>C | XP_011537063.1:p.Asn2525= | |
| XM_011538762.3:c.6972T>C | XP_011537064.1:p.Asn2324= | |
| XM_011538763.3:c.6879T>C | XP_011537065.1:p.Asn2293= | |
| XM_011538766.3:c.6201T>C | XP_011537068.1:p.Asn2067= | |
| XM_017019980.2:c.7608T>C | XP_016875469.1:p.Asn2536= | |
| XM_017019981.2:c.7566T>C | XP_016875470.1:p.Asn2522= | |
| XM_017019982.1:c.7740T>C | XP_016875471.1:p.Asn2580= | |
| XM_017019983.2:c.6858T>C | XP_016875472.1:p.Asn2286= | |
| XR_001748869.1:n.8075T>C | ||
| XR_001748870.2:n.7910T>C | ||
| NM_025114.4:c.6870T>C MANE Select | NP_079390.3:p.Asn2290= |