Linked Data
ClinVar Variation Id:
92741
dbSNP Id:
rs398123292
ExAC:
12:103271326 G / A
gnomAD v2:
12-103271326-G-A
gnomAD v3:
12-102877548-G-A
gnomAD v4:
12-102877548-G-A
COSMIC:
COSM4574947
ERepo:
CA220582/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877548G>A , CM000674.2:g.102877548G>A | GRCh38 |
| NC_000012.11:g.103271326G>A , CM000674.1:g.103271326G>A | GRCh37 |
| NC_000012.10:g.101795456G>A | NCBI36 |
| NG_008690.1:g.45055C>T | |
| NG_008690.2:g.85863C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.355C>T MANE Select | ENSP00000448059.1:p.Pro119Ser | |
| ENST00000307000.7:c.340C>T | ENSP00000303500.2:p.Pro114Ser | |
| ENST00000549111.5:n.451C>T | ||
| ENST00000550978.6:c.339C>T | ||
| ENST00000551337.5:c.355C>T | ENSP00000447620.1:p.Pro119Ser | |
| ENST00000551988.5:n.444C>T | ||
| ENST00000553106.5:c.355C>T | ENSP00000448059.1:p.Pro119Ser | |
| NM_000277.1:c.355C>T | NP_000268.1:p.Pro119Ser | |
| XM_011538422.1:c.355C>T | XP_011536724.1:p.Pro119Ser | |
| NM_000277.2:c.355C>T | NP_000268.1:p.Pro119Ser | |
| NM_001354304.1:c.355C>T | NP_001341233.1:p.Pro119Ser | |
| XM_017019370.2:c.355C>T | XP_016874859.1:p.Pro119Ser | |
| NM_000277.3:c.355C>T MANE Select | NP_000268.1:p.Pro119Ser | |
| NM_001354304.2:c.355C>T | NP_001341233.1:p.Pro119Ser |