Linked Data
ClinVar Variation Id:
500152
ClinVar RCV Id:
RCV000593577
dbSNP Id:
rs760917535
ExAC:
14:74946975 A / C
gnomAD v2:
14-74946975-A-C
gnomAD v4:
14-74480272-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74480272A>C , CM000676.2:g.74480272A>C | GRCh38 |
| NC_000014.8:g.74946975A>C , CM000676.1:g.74946975A>C | GRCh37 |
| NC_000014.7:g.74016728A>C | NCBI36 |
| NG_007117.1:g.18110T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.*2T>G MANE Select | ENSP00000451112.2:n.*2T>G | |
| ENST00000238633.6:c.*2T>G | ENSP00000238633.2:n.*2T>G | |
| ENST00000434013.6:c.441+430T>G | ENSP00000412103.2:n.441+430T>G | |
| ENST00000541064.5:c.*2T>G | ENSP00000442488.1:n.*2T>G | |
| ENST00000553490.5:c.474T>G | ENSP00000451180.1:p.Ser158Arg | |
| ENST00000554482.1:c.253T>G | ENSP00000451314.1:n.253T>G | |
| ENST00000555619.5:c.*2T>G | ENSP00000451112.1:n.*2T>G | |
| ENST00000556009.5:c.523T>G | ||
| ENST00000557510.5:c.*346T>G | ENSP00000451206.1:n.*346T>G | |
| NM_006432.3:c.*2T>G | NP_006423.1:n.*2T>G | |
| NM_001363688.1:c.*346T>G | NP_001350617.1:n.*346T>G | |
| NM_006432.4:c.*2T>G | NP_006423.1:n.*2T>G | |
| NM_001375440.1:c.*2T>G | NP_001362369.1:n.*2T>G | |
| NM_006432.5:c.*2T>G MANE Select | NP_006423.1:n.*2T>G |