Linked Data
dbSNP Id:
rs2146049114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551649A>C , CM000681.2:g.43551649A>C | GRCh38 |
| NC_000019.9:g.44055801A>C , CM000681.1:g.44055801A>C | GRCh37 |
| NC_000019.8:g.48747641A>C | NCBI36 |
| NG_033799.1:g.28930T>G , LRG_784:g.28930T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1121T>G MANE Select | ENSP00000262887.5:p.Leu374Arg | |
| ENST00000262887.9:c.1121T>G | ENSP00000262887.4:p.Leu374Arg | |
| ENST00000543982.5:c.1028T>G | ENSP00000443671.1:p.Leu343Arg | |
| ENST00000597811.5:c.731T>G | ||
| NM_006297.2:c.1121T>G , LRG_784t1:c.1121T>G | NP_006288.2:p.Leu374Arg | |
| NM_006297.3:c.1121T>G MANE Select | NP_006288.2:p.Leu374Arg |