Linked Data
MyVariant Identifiers:
chr8:g.118819533A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807294A>C , CM000670.2:g.117807294A>C | GRCh38 |
| NC_000008.10:g.118819533A>C , CM000670.1:g.118819533A>C | GRCh37 |
| NC_000008.9:g.118888714A>C | NCBI36 |
| NG_007455.2:g.309526T>G , LRG_493:g.309526T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1273T>G | ||
| ENST00000378204.7:c.1806T>G MANE Select | ENSP00000367446.3:p.Ser602= | |
| ENST00000378204.6:c.1806T>G | ENSP00000367446.2:p.Ser602= | |
| ENST00000437196.1:c.*697T>G | ENSP00000407299.1:n.*697T>G | |
| NM_000127.2:c.1806T>G , LRG_493t1:c.1806T>G | NP_000118.2:p.Ser602= | |
| NM_000127.3:c.1806T>G MANE Select | NP_000118.2:p.Ser602= |