Linked Data
ClinVar Variation Id:
8486
dbSNP Id:
rs104894458
gnomAD v2:
14-74951123-G-A
gnomAD v4:
14-74484420-G-A
PubMed:
PMID:17470133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74484420G>A , CM000676.2:g.74484420G>A | GRCh38 |
| NC_000014.8:g.74951123G>A , CM000676.1:g.74951123G>A | GRCh37 |
| NC_000014.7:g.74020876G>A | NCBI36 |
| NG_007117.1:g.13962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.358C>T MANE Select | ENSP00000451112.2:p.Pro120Ser | |
| ENST00000238633.6:c.358C>T | ENSP00000238633.2:p.Pro120Ser | |
| ENST00000434013.6:c.358C>T | ENSP00000412103.2:p.Pro120Ser | |
| ENST00000541064.5:c.358C>T | ENSP00000442488.1:p.Pro120Ser | |
| ENST00000553490.5:c.358C>T | ENSP00000451180.1:p.Pro120Ser | |
| ENST00000554482.1:c.158+1909C>T | ENSP00000451314.1:n.158+1909C>T | |
| ENST00000555592.1:c.358C>T | ENSP00000450887.1:p.Pro120Ser | |
| ENST00000555619.5:c.358C>T | ENSP00000451112.1:p.Pro120Ser | |
| ENST00000556009.5:c.423C>T | ||
| ENST00000557510.5:c.358C>T | ENSP00000451206.1:p.Pro120Ser | |
| NM_006432.3:c.358C>T | NP_006423.1:p.Pro120Ser | |
| NM_001363688.1:c.358C>T | NP_001350617.1:p.Pro120Ser | |
| NM_006432.4:c.358C>T | NP_006423.1:p.Pro120Ser | |
| NM_001375440.1:c.358C>T | NP_001362369.1:p.Pro120Ser | |
| NM_006432.5:c.358C>T MANE Select | NP_006423.1:p.Pro120Ser |