Linked Data
ClinVar Variation Id:
93449
ClinVar RCV Id:
RCV001004111
RCV000414719
RCV000781411
RCV000663363
RCV001248963
RCV001808310
RCV003335096
dbSNP Id:
rs421016
gnomAD v2:
1-155205043-A-C
gnomAD v4:
1-155235252-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155235252A>C , CM000663.2:g.155235252A>C | GRCh38 |
| NC_000001.10:g.155205043A>C , CM000663.1:g.155205043A>C | GRCh37 |
| NC_000001.9:g.153471667A>C | NCBI36 |
| NG_009783.1:g.14446T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1448T>G MANE Select | ENSP00000357357.3:p.Leu483Arg | |
| ENST00000327247.9:c.1448T>G | ENSP00000314508.5:p.Leu483Arg | |
| ENST00000368373.7:c.1448T>G | ENSP00000357357.3:p.Leu483Arg | |
| ENST00000427500.7:c.1301T>G | ENSP00000402577.2:p.Leu434Arg | |
| ENST00000428024.3:c.1187T>G | ENSP00000397986.2:p.Leu396Arg | |
| ENST00000464536.1:n.190+394T>G | ||
| ENST00000478472.1:n.808T>G | ||
| ENST00000484489.5:n.607T>G | ||
| NM_000157.3:c.1448T>G | NP_000148.2:p.Leu483Arg | |
| NM_001005741.2:c.1448T>G | NP_001005741.1:p.Leu483Arg | |
| NM_001005742.2:c.1448T>G | NP_001005742.1:p.Leu483Arg | |
| NM_001171811.1:c.1187T>G | NP_001165282.1:p.Leu396Arg | |
| NM_001171812.1:c.1301T>G | NP_001165283.1:p.Leu434Arg | |
| XM_006711270.1:c.1448T>G | XP_006711333.1:p.Leu483Arg | |
| XM_011509407.1:c.1448T>G | XP_011507709.1:p.Leu483Arg | |
| NM_000157.4:c.1448T>G MANE Select | NP_000148.2:p.Leu483Arg | |
| NM_001005741.3:c.1448T>G | NP_001005741.1:p.Leu483Arg | |
| NM_001005742.3:c.1448T>G | NP_001005742.1:p.Leu483Arg | |
| NM_001171811.2:c.1187T>G | NP_001165282.1:p.Leu396Arg | |
| NM_001171812.2:c.1301T>G | NP_001165283.1:p.Leu434Arg |