Linked Data
ClinVar Variation Id:
97612
ClinVar RCV Id:
RCV001381669
dbSNP Id:
rs104895366
ExAC:
12:110028607 A / T
gnomAD v2:
12-110028607-A-T
gnomAD v3:
12-109590802-A-T
gnomAD v4:
12-109590802-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109590802A>T , CM000674.2:g.109590802A>T | GRCh38 |
| NC_000012.11:g.110028607A>T , CM000674.1:g.110028607A>T | GRCh37 |
| NC_000012.10:g.108512990A>T | NCBI36 |
| NG_007702.1:g.22108A>T , LRG_156:g.22108A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.-91-44A>T | ENSP00000439134.1:n.-91-44A>T | |
| ENST00000546277.6:c.709A>T | ENSP00000438153.2:p.Thr237Ser | |
| ENST00000636529.2:n.348A>T | ||
| ENST00000697195.1:c.*473A>T | ENSP00000513181.1:n.*473A>T | |
| ENST00000697196.1:c.797A>T | ENSP00000513182.1:p.His266Leu | |
| ENST00000697197.1:n.2359A>T | ||
| ENST00000228510.8:c.709A>T MANE Select | ENSP00000228510.3:p.Thr237Ser | |
| ENST00000636529.1:c.334A>T | ||
| ENST00000636996.1:c.557A>T | ||
| ENST00000228510.7:c.709A>T | ENSP00000228510.3:p.Thr237Ser | |
| ENST00000392727.7:c.553A>T | ENSP00000376487.3:p.Thr185Ser | |
| ENST00000447878.6:c.*156A>T | ENSP00000415555.2:n.*156A>T | |
| ENST00000537237.5:c.*442-439A>T | ENSP00000445382.1:n.*442-439A>T | |
| ENST00000539575.4:c.709A>T | ENSP00000443551.2:p.Thr237Ser | |
| ENST00000539696.5:c.-91-44A>T | ENSP00000439134.1:n.-91-44A>T | |
| ENST00000540353.1:n.2942A>T | ||
| ENST00000625889.2:c.553A>T | ENSP00000486846.1:p.Thr185Ser | |
| ENST00000629016.2:c.*156A>T | ENSP00000486804.1:n.*156A>T | |
| NM_000431.3:c.709A>T | NP_000422.1:p.Thr237Ser | |
| NM_001114185.2:c.709A>T | NP_001107657.1:p.Thr237Ser | |
| NM_001301182.1:c.553A>T | NP_001288111.1:p.Thr185Ser | |
| XM_011538372.1:c.709A>T | XP_011536674.1:p.Thr237Ser | |
| XM_017019313.2:c.553A>T | XP_016874802.1:p.Thr185Ser | |
| XM_017019314.1:c.709A>T | XP_016874803.1:p.Thr237Ser | |
| XM_024448982.1:c.709A>T | XP_024304750.1:p.Thr237Ser | |
| NM_000431.4:c.709A>T MANE Select | NP_000422.1:p.Thr237Ser | |
| NM_001114185.3:c.709A>T | NP_001107657.1:p.Thr237Ser | |
| NM_001301182.2:c.553A>T | NP_001288111.1:p.Thr185Ser |