Linked Data
MyVariant Identifiers:
chr1:g.17349187T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022692T>C , CM000663.2:g.17022692T>C | GRCh38 |
| NC_000001.10:g.17349187T>C , CM000663.1:g.17349187T>C | GRCh37 |
| NC_000001.9:g.17221774T>C | NCBI36 |
| NG_012340.1:g.36479A>G , LRG_316:g.36479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.510A>G | ENSP00000481376.2:p.Thr170= | |
| ENST00000491274.6:c.639A>G | ENSP00000480482.2:p.Thr213= | |
| ENST00000375499.8:c.681A>G MANE Select | ENSP00000364649.3:p.Thr227= | |
| ENST00000375499.7:c.681A>G | ENSP00000364649.3:p.Thr227= | |
| ENST00000475049.5:n.106A>G | ||
| ENST00000485092.5:n.345A>G | ||
| ENST00000485515.5:n.615A>G | ||
| NM_003000.2:c.681A>G , LRG_316t1:c.681A>G | NP_002991.2:p.Thr227= | |
| NM_003000.3:c.681A>G MANE Select | NP_002991.2:p.Thr227= |