Linked Data
ClinVar Variation Id:
134360
dbSNP Id:
rs141147618
ExAC:
9:35075738 G / C
gnomAD v2:
9-35075738-G-C
gnomAD v3:
9-35075741-G-C
gnomAD v4:
9-35075741-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35075741G>C , CM000671.2:g.35075741G>C | GRCh38 |
| NC_000009.11:g.35075738G>C , CM000671.1:g.35075738G>C | GRCh37 |
| NC_000009.10:g.35065738G>C | NCBI36 |
| NG_007312.1:g.9276C>G , LRG_499:g.9276C>G | |
| NG_007887.1:g.2002C>G , LRG_657:g.2002C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.1157C>G | ENSP00000409607.2:p.Pro386Arg | |
| ENST00000461149.2:n.2361-12C>G | ||
| ENST00000696700.1:n.2396-12C>G | ||
| ENST00000696701.1:n.1261C>G | ||
| ENST00000696702.1:c.*620-12C>G | ENSP00000512821.1:n.*620-12C>G | |
| ENST00000696703.1:c.*553-12C>G | ENSP00000512822.1:n.*553-12C>G | |
| ENST00000696706.1:n.1220C>G | ||
| ENST00000696707.1:n.1374C>G | ||
| ENST00000696708.1:c.*502C>G | ENSP00000512825.1:n.*502C>G | |
| ENST00000696709.1:n.1748C>G | ||
| ENST00000696710.1:c.1157C>G | ENSP00000512826.1:p.Pro386Arg | |
| ENST00000696711.1:n.3216C>G | ||
| ENST00000696712.1:n.1260-12C>G | ||
| ENST00000696713.1:c.1157C>G | ENSP00000512827.1:p.Pro386Arg | |
| ENST00000696714.1:n.1553-12C>G | ||
| ENST00000696715.1:c.1157C>G | ENSP00000512828.1:p.Pro386Arg | |
| ENST00000378643.8:c.1157C>G MANE Select | ENSP00000367910.4:p.Pro386Arg | |
| ENST00000378643.7:c.1157C>G | ENSP00000367910.3:p.Pro386Arg | |
| ENST00000425676.5:c.*633C>G | ENSP00000412793.1:n.*633C>G | |
| ENST00000476212.1:n.44+781C>G | ||
| NM_004629.1:c.1157C>G , LRG_499t1:c.1157C>G | NP_004620.1:p.Pro386Arg | |
| NM_004629.2:c.1157C>G MANE Select | NP_004620.1:p.Pro386Arg |