Linked Data
ClinVar Variation Id:
1347549
ClinVar RCV Id:
RCV002050624
dbSNP Id:
rs2142300078
gnomAD v4:
16-23614078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23614078C>T , CM000678.2:g.23614078C>T | GRCh38 |
| NC_000016.9:g.23625399C>T , CM000678.1:g.23625399C>T | GRCh37 |
| NC_000016.8:g.23532900C>T | NCBI36 |
| NG_007406.1:g.32280G>A , LRG_308:g.32280G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3133G>A | ENSP00000460666.3:p.Gly1045Ser | |
| ENST00000565038.2:c.*608G>A | ENSP00000459882.2:n.*608G>A | |
| ENST00000566069.6:c.3127G>A | ENSP00000459237.2:p.Gly1043Ser | |
| ENST00000697377.2:c.2971G>A | ENSP00000513286.2:p.Gly991Ser | |
| ENST00000697379.2:c.3133G>A | ENSP00000513287.2:p.Gly1045Ser | |
| ENST00000561514.2:c.2242G>A | ENSP00000460666.2:p.Gly748Ser | |
| ENST00000697374.1:c.2242G>A | ENSP00000513284.1:p.Gly748Ser | |
| ENST00000697375.1:n.4474G>A | ||
| ENST00000697376.1:c.2242G>A | ENSP00000513285.1:p.Gly748Ser | |
| ENST00000697377.1:c.2080G>A | ENSP00000513286.1:p.Gly694Ser | |
| ENST00000697378.1:n.3647G>A | ||
| ENST00000697379.1:c.2242G>A | ENSP00000513287.1:p.Gly748Ser | |
| ENST00000697380.1:n.2406-6066G>A | ||
| ENST00000697381.1:n.1822G>A | ||
| ENST00000697382.1:c.2229-6066G>A | ENSP00000513288.1:n.2229-6066G>A | |
| ENST00000697383.1:c.661G>A | ENSP00000513289.1:p.Gly221Ser | |
| ENST00000261584.9:c.3127G>A MANE Select | ENSP00000261584.4:p.Gly1043Ser | |
| ENST00000261584.8:c.3127G>A | ENSP00000261584.4:p.Gly1043Ser | |
| ENST00000566069.5:c.42G>A | ||
| ENST00000568219.5:c.2242G>A | ENSP00000454703.2:p.Gly748Ser | |
| NM_024675.3:c.3127G>A , LRG_308t1:c.3127G>A | NP_078951.2:p.Gly1043Ser | |
| XM_011545946.1:c.3133G>A | XP_011544248.1:p.Gly1045Ser | |
| XM_011545947.1:c.3133G>A | XP_011544249.1:p.Gly1045Ser | |
| XM_011545948.1:c.2242G>A | XP_011544250.1:p.Gly748Ser | |
| XR_950851.1:n.3910-6066G>A | ||
| XM_011545946.2:c.3133G>A | XP_011544248.1:p.Gly1045Ser | |
| XM_011545947.2:c.3133G>A | XP_011544249.1:p.Gly1045Ser | |
| XM_011545948.2:c.2242G>A | XP_011544250.1:p.Gly748Ser | |
| XM_017023671.1:c.3119+7284G>A | XP_016879160.1:n.3119+7284G>A | |
| XM_017023672.2:c.3113+7284G>A | XP_016879161.1:n.3113+7284G>A | |
| XM_017023673.2:c.3127G>A | XP_016879162.1:p.Gly1043Ser | |
| NM_024675.4:c.3127G>A MANE Select | NP_078951.2:p.Gly1043Ser |