Linked Data
dbSNP Id:
rs1828312690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542015A>G , CM000671.2:g.98542015A>G | GRCh38 |
| NC_000009.11:g.101304297A>G , CM000671.1:g.101304297A>G | GRCh37 |
| NC_000009.10:g.100344118A>G | NCBI36 |
| NG_016426.1:g.172183T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.488T>C MANE Select | ENSP00000259455.2:p.Leu163Pro | |
| ENST00000637410.1:n.266T>C | ||
| ENST00000637717.1:c.104T>C | ENSP00000490789.1:p.Leu35Pro | |
| ENST00000638001.1:n.98T>C | ||
| ENST00000259455.3:c.488T>C | ENSP00000259455.2:p.Leu163Pro | |
| ENST00000477471.1:n.275T>C | ||
| ENST00000634227.1:n.262T>C | ||
| NM_005458.7:c.488T>C | NP_005449.5:p.Leu163Pro | |
| XM_017015331.2:c.194T>C | XP_016870820.1:p.Leu65Pro | |
| NM_005458.8:c.488T>C MANE Select | NP_005449.5:p.Leu163Pro |