Linked Data
ClinVar Variation Id:
2933209
ClinVar RCV Id:
RCV003790327
dbSNP Id:
rs1381024131
gnomAD v2:
12-110034334-A-T
gnomAD v3:
12-109596529-A-T
gnomAD v4:
12-109596529-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109596529A>T , CM000674.2:g.109596529A>T | GRCh38 |
| NC_000012.11:g.110034334A>T , CM000674.1:g.110034334A>T | GRCh37 |
| NC_000012.10:g.108518717A>T | NCBI36 |
| NG_007702.1:g.27835A>T , LRG_156:g.27835A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.300A>T | ENSP00000439134.1:p.Ser100= | |
| ENST00000546277.6:c.1143A>T | ENSP00000438153.2:p.Ser381= | |
| ENST00000636529.2:n.782A>T | ||
| ENST00000697195.1:c.*907A>T | ENSP00000513181.1:n.*907A>T | |
| ENST00000697196.1:c.*316A>T | ENSP00000513182.1:n.*316A>T | |
| ENST00000697197.1:n.3172A>T | ||
| ENST00000697198.1:n.1527A>T | ||
| ENST00000228510.8:c.1143A>T MANE Select | ENSP00000228510.3:p.Ser381= | |
| ENST00000636529.1:c.768A>T | ||
| ENST00000636996.1:c.991A>T | ||
| ENST00000228510.7:c.1143A>T | ENSP00000228510.3:p.Ser381= | |
| ENST00000392727.7:c.987A>T | ENSP00000376487.3:p.Ser329= | |
| ENST00000447878.6:c.*590A>T | ENSP00000415555.2:n.*590A>T | |
| ENST00000537237.5:c.*816A>T | ENSP00000445382.1:n.*816A>T | |
| ENST00000539575.4:c.1143A>T | ENSP00000443551.2:p.Ser381= | |
| ENST00000539696.5:c.300A>T | ENSP00000439134.1:p.Ser100= | |
| ENST00000540353.1:n.3376A>T | ||
| ENST00000625889.2:c.987A>T | ENSP00000486846.1:p.Ser329= | |
| ENST00000629016.2:c.*590A>T | ENSP00000486804.1:n.*590A>T | |
| NM_000431.3:c.1143A>T | NP_000422.1:p.Ser381= | |
| NM_001114185.2:c.1143A>T | NP_001107657.1:p.Ser381= | |
| NM_001301182.1:c.987A>T | NP_001288111.1:p.Ser329= | |
| XM_011538372.1:c.1143A>T | XP_011536674.1:p.Ser381= | |
| XM_017019313.2:c.987A>T | XP_016874802.1:p.Ser329= | |
| XM_017019314.1:c.1143A>T | XP_016874803.1:p.Ser381= | |
| NM_000431.4:c.1143A>T MANE Select | NP_000422.1:p.Ser381= | |
| NM_001114185.3:c.1143A>T | NP_001107657.1:p.Ser381= | |
| NM_001301182.2:c.987A>T | NP_001288111.1:p.Ser329= |