Linked Data
ClinVar Variation Id:
192273
ClinVar RCV Id:
RCV000172855
dbSNP Id:
rs876657396
PubMed:
PMID:25670821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40089416C>G , CM000679.2:g.40089416C>G | GRCh38 |
| NC_000017.10:g.38245669C>G , CM000679.1:g.38245669C>G | GRCh37 |
| NC_000017.9:g.35499195C>G | NCBI36 |
| NG_023345.1:g.32224C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450525.7:c.1193C>G MANE Select | ENSP00000395641.3:p.Pro398Arg | |
| ENST00000264637.8:c.1110+83C>G | ENSP00000264637.4:n.1110+83C>G | |
| ENST00000394121.8:c.1110+83C>G | ENSP00000377679.4:n.1110+83C>G | |
| ENST00000450525.6:c.1193C>G | ENSP00000395641.2:p.Pro398Arg | |
| ENST00000546243.5:c.1193C>G | ENSP00000443972.1:p.Pro398Arg | |
| ENST00000584985.5:c.1110+83C>G | ENSP00000463466.1:n.1110+83C>G | |
| NM_001190918.1:c.1110+83C>G | NP_001177847.1:n.1110+83C>G | |
| NM_001190919.1:c.1110+83C>G | NP_001177848.1:n.1110+83C>G | |
| NM_003250.5:c.1110+83C>G | NP_003241.2:n.1110+83C>G | |
| NM_199334.3:c.1193C>G | NP_955366.1:p.Pro398Arg | |
| NM_001190918.2:c.1110+83C>G | NP_001177847.1:n.1110+83C>G | |
| NM_003250.6:c.1110+83C>G | NP_003241.2:n.1110+83C>G | |
| NM_199334.5:c.1193C>G MANE Select | NP_955366.1:p.Pro398Arg | |
| NM_001190919.2:c.1110+83C>G | NP_001177848.1:n.1110+83C>G |