Linked Data
ClinVar Variation Id:
11932
ClinVar RCV Id:
RCV000012709
RCV000012710
RCV000191109
RCV000218157
RCV000505909
RCV000698175
RCV002255091
RCV002262564
RCV002512988
dbSNP Id:
rs104895304
ExAC:
12:110029080 T / C
gnomAD v2:
12-110029080-T-C
gnomAD v3:
12-109591275-T-C
gnomAD v4:
12-109591275-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109591275T>C , CM000674.2:g.109591275T>C | GRCh38 |
| NC_000012.11:g.110029080T>C , CM000674.1:g.110029080T>C | GRCh37 |
| NC_000012.10:g.108513463T>C | NCBI36 |
| NG_007702.1:g.22581T>C , LRG_156:g.22581T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.-41T>C | ENSP00000439134.1:n.-41T>C | |
| ENST00000546277.6:c.803T>C | ENSP00000438153.2:p.Ile268Thr | |
| ENST00000636529.2:n.442T>C | ||
| ENST00000697195.1:c.*567T>C | ENSP00000513181.1:n.*567T>C | |
| ENST00000697196.1:c.891T>C | ENSP00000513182.1:p.Asn297= | |
| ENST00000697197.1:n.2832T>C | ||
| ENST00000228510.8:c.803T>C MANE Select | ENSP00000228510.3:p.Ile268Thr | |
| ENST00000636529.1:c.428T>C | ||
| ENST00000636996.1:c.651T>C | ||
| ENST00000228510.7:c.803T>C | ENSP00000228510.3:p.Ile268Thr | |
| ENST00000392727.7:c.647T>C | ENSP00000376487.3:p.Ile216Thr | |
| ENST00000447878.6:c.*250T>C | ENSP00000415555.2:n.*250T>C | |
| ENST00000537237.5:c.*476T>C | ENSP00000445382.1:n.*476T>C | |
| ENST00000539575.4:c.803T>C | ENSP00000443551.2:p.Ile268Thr | |
| ENST00000539696.5:c.-41T>C | ENSP00000439134.1:n.-41T>C | |
| ENST00000540353.1:n.3036T>C | ||
| ENST00000625889.2:c.647T>C | ENSP00000486846.1:p.Ile216Thr | |
| ENST00000629016.2:c.*250T>C | ENSP00000486804.1:n.*250T>C | |
| NM_000431.3:c.803T>C | NP_000422.1:p.Ile268Thr | |
| NM_001114185.2:c.803T>C | NP_001107657.1:p.Ile268Thr | |
| NM_001301182.1:c.647T>C | NP_001288111.1:p.Ile216Thr | |
| XM_011538372.1:c.803T>C | XP_011536674.1:p.Ile268Thr | |
| XM_017019313.2:c.647T>C | XP_016874802.1:p.Ile216Thr | |
| XM_017019314.1:c.803T>C | XP_016874803.1:p.Ile268Thr | |
| XM_024448982.1:c.803T>C | XP_024304750.1:p.Ile268Thr | |
| NM_000431.4:c.803T>C MANE Select | NP_000422.1:p.Ile268Thr | |
| NM_001114185.3:c.803T>C | NP_001107657.1:p.Ile268Thr | |
| NM_001301182.2:c.647T>C | NP_001288111.1:p.Ile216Thr |