Linked Data
ClinVar Variation Id:
2554794
ClinVar RCV Id:
RCV003277670
dbSNP Id:
rs754492511
gnomAD v2:
1-36563996-G-T
gnomAD v3:
1-36098395-G-T
gnomAD v4:
1-36098395-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36098395G>T , CM000663.2:g.36098395G>T | GRCh38 |
| NC_000001.10:g.36563996G>T , CM000663.1:g.36563996G>T | GRCh37 |
| NC_000001.9:g.36336583G>T | NCBI36 |
| NG_016245.2:g.31690C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397799.2:c.1286C>A MANE Select | ENSP00000380901.1:p.Pro429Gln | |
| ENST00000303143.9:c.1286C>A | ENSP00000305913.4:p.Pro429Gln | |
| ENST00000397799.1:c.1286C>A | ENSP00000380901.1:p.Pro429Gln | |
| ENST00000481785.1:c.1091C>A | ENSP00000436433.1:p.Pro364Gln | |
| ENST00000615990.1:c.773-315C>A | ENSP00000484406.1:n.773-315C>A | |
| NM_001294347.1:c.1091C>A | NP_001281276.1:p.Pro364Gln | |
| NM_005202.3:c.1286C>A | NP_005193.1:p.Pro429Gln | |
| XM_005270477.2:c.1517C>A | XP_005270534.1:p.Pro506Gln | |
| XM_005270477.3:c.1517C>A | XP_005270534.1:p.Pro506Gln | |
| NM_005202.4:c.1286C>A MANE Select | NP_005193.1:p.Pro429Gln | |
| NM_001294347.2:c.1091C>A | NP_001281276.1:p.Pro364Gln |