Linked Data
ClinVar Variation Id:
143156
ClinVar RCV Id:
RCV000132681
RCV000193732
RCV000490488
RCV001083794
RCV000988879
RCV001110732
RCV001109949
RCV001109950
RCV001272010
RCV001110731
RCV003888568
dbSNP Id:
rs77778467
ExAC:
12:88452656 T / C
gnomAD v2:
12-88452656-T-C
gnomAD v3:
12-88058879-T-C
gnomAD v4:
12-88058879-T-C
PubMed:
PMID:21602930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88058879T>C , CM000674.2:g.88058879T>C | GRCh38 |
| NC_000012.11:g.88452656T>C , CM000674.1:g.88452656T>C | GRCh37 |
| NC_000012.10:g.86976787T>C | NCBI36 |
| NG_008417.1:g.88338A>G | |
| NG_008417.2:g.88338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6796A>G | ENSP00000308021.8:p.Ser2266Gly | |
| ENST00000547691.8:c.3929+1019A>G | ||
| ENST00000552810.6:c.6787A>G MANE Select | ENSP00000448012.1:p.Ser2263Gly | |
| ENST00000671777.2:n.566A>G | ||
| ENST00000672414.2:c.*4793A>G | ENSP00000500729.1:n.*4793A>G | |
| ENST00000672647.1:n.5147A>G | ||
| ENST00000673058.2:c.6664A>G | ENSP00000500665.2:p.Ser2222Gly | |
| ENST00000674712.1:n.314A>G | ||
| ENST00000674889.1:n.3740A>G | ||
| ENST00000674971.1:c.6787A>G | ENSP00000502194.1:p.Ser2263Gly | |
| ENST00000675230.1:c.6766A>G | ENSP00000502503.1:p.Ser2256Gly | |
| ENST00000675408.1:c.6622A>G | ENSP00000502298.1:p.Ser2208Gly | |
| ENST00000675476.1:c.7648A>G | ENSP00000502161.1:p.Ser2550Gly | |
| ENST00000675628.1:n.7014A>G | ||
| ENST00000675794.1:c.*4958A>G | ENSP00000502841.1:n.*4958A>G | |
| ENST00000675833.1:c.7555A>G | ENSP00000502559.1:p.Ser2519Gly | |
| ENST00000675894.1:n.3092A>G | ||
| ENST00000676074.1:c.6622A>G | ENSP00000502079.1:p.Ser2208Gly | |
| ENST00000676181.1:n.5715A>G | ||
| ENST00000676190.1:n.1226A>G | ||
| ENST00000676363.1:n.12513A>G | ||
| ENST00000309041.11:c.6793A>G | ENSP00000308021.7:p.Ser2265Gly | |
| ENST00000547691.6:c.3967A>G | ENSP00000446905.1:p.Ser1323Gly | |
| ENST00000552810.5:c.6787A>G | ENSP00000448012.1:p.Ser2263Gly | |
| NM_025114.3:c.6787A>G | NP_079390.3:p.Ser2263Gly | |
| XM_011538756.1:c.7657A>G | XP_011537058.1:p.Ser2553Gly | |
| XM_011538757.1:c.7657A>G | XP_011537059.1:p.Ser2553Gly | |
| XM_011538758.1:c.7654A>G | XP_011537060.1:p.Ser2552Gly | |
| XM_011538759.1:c.7648A>G | XP_011537061.1:p.Ser2550Gly | |
| XM_011538760.1:c.7534A>G | XP_011537062.1:p.Ser2512Gly | |
| XM_011538761.1:c.7492A>G | XP_011537063.1:p.Ser2498Gly | |
| XM_011538762.1:c.6889A>G | XP_011537064.1:p.Ser2297Gly | |
| XM_011538763.1:c.6796A>G | XP_011537065.1:p.Ser2266Gly | |
| XM_011538766.1:c.6118A>G | XP_011537068.1:p.Ser2040Gly | |
| XR_945163.1:n.967+1859T>C | ||
| XM_011538756.3:c.7657A>G | XP_011537058.1:p.Ser2553Gly | |
| XM_011538757.3:c.7657A>G | XP_011537059.1:p.Ser2553Gly | |
| XM_011538758.3:c.7654A>G | XP_011537060.1:p.Ser2552Gly | |
| XM_011538759.2:c.7648A>G | XP_011537061.1:p.Ser2550Gly | |
| XM_011538760.2:c.7534A>G | XP_011537062.1:p.Ser2512Gly | |
| XM_011538761.2:c.7492A>G | XP_011537063.1:p.Ser2498Gly | |
| XM_011538762.3:c.6889A>G | XP_011537064.1:p.Ser2297Gly | |
| XM_011538763.3:c.6796A>G | XP_011537065.1:p.Ser2266Gly | |
| XM_011538766.3:c.6118A>G | XP_011537068.1:p.Ser2040Gly | |
| XM_017019980.2:c.7525A>G | XP_016875469.1:p.Ser2509Gly | |
| XM_017019981.2:c.7483A>G | XP_016875470.1:p.Ser2495Gly | |
| XM_017019982.1:c.7657A>G | XP_016875471.1:p.Ser2553Gly | |
| XM_017019983.2:c.6775A>G | XP_016875472.1:p.Ser2259Gly | |
| XR_001748869.1:n.7992A>G | ||
| XR_001748870.2:n.7827A>G | ||
| NM_025114.4:c.6787A>G MANE Select | NP_079390.3:p.Ser2263Gly |