Linked Data
ClinVar Variation Id:
217662
dbSNP Id:
rs754637179
ExAC:
9:139328579 G / A
gnomAD v2:
9-139328579-G-A
gnomAD v3:
9-136434127-G-A
gnomAD v4:
9-136434127-G-A
COSMIC:
COSM4513606
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136434127G>A , CM000671.2:g.136434127G>A | GRCh38 |
| NC_000009.11:g.139328579G>A , CM000671.1:g.139328579G>A | GRCh37 |
| NC_000009.10:g.138448400G>A | NCBI36 |
| NG_016126.1:g.10678C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371712.4:c.944C>T MANE Select | ENSP00000360777.3:p.Pro315Leu | |
| ENST00000674513.1:n.215C>T | ||
| ENST00000675256.1:c.174C>T | ||
| ENST00000676019.1:c.944C>T | ENSP00000501984.1:p.Pro315Leu | |
| ENST00000371712.3:c.944C>T | ENSP00000360777.3:p.Pro315Leu | |
| NM_019892.4:c.944C>T | NP_063945.2:p.Pro315Leu | |
| XM_005266094.2:c.944C>T | XP_005266151.1:p.Pro315Leu | |
| XR_929828.1:n.1384C>T | ||
| NM_001318502.1:c.944C>T | NP_001305431.1:p.Pro315Leu | |
| NM_019892.5:c.944C>T | NP_063945.2:p.Pro315Leu | |
| XM_017014926.1:c.944C>T | XP_016870415.1:p.Pro315Leu | |
| XR_929828.2:n.1386C>T | ||
| NM_019892.6:c.944C>T MANE Select | NP_063945.2:p.Pro315Leu | |
| NM_001318502.2:c.944C>T | NP_001305431.1:p.Pro315Leu |