Linked Data
ClinVar Variation Id:
362313
dbSNP Id:
rs149033081
ExAC:
8:15531315 T / C
gnomAD v2:
8-15531315-T-C
gnomAD v3:
8-15673806-T-C
gnomAD v4:
8-15673806-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15673806T>C , CM000670.2:g.15673806T>C | GRCh38 |
| NC_000008.10:g.15531315T>C , CM000670.1:g.15531315T>C | GRCh37 |
| NC_000008.9:g.15575686T>C | NCBI36 |
| NG_012141.2:g.138586T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503731.6:c.768T>C MANE Select | ENSP00000424544.1:p.Tyr256= | |
| ENST00000382020.8:c.768T>C | ENSP00000371450.4:p.Tyr256= | |
| ENST00000503191.5:n.701T>C | ||
| ENST00000503731.5:c.768T>C | ENSP00000424544.1:p.Tyr256= | |
| ENST00000506802.5:c.768T>C | ENSP00000425777.1:p.Tyr256= | |
| ENST00000507400.1:n.697T>C | ||
| ENST00000508446.1:n.44T>C | ||
| ENST00000509380.5:c.768T>C | ENSP00000423426.1:p.Tyr256= | |
| ENST00000510836.5:c.768T>C | ENSP00000426973.1:p.Tyr256= | |
| ENST00000511783.2:c.630T>C | ENSP00000426880.2:p.Tyr210= | |
| ENST00000515859.5:c.768T>C | ENSP00000420829.1:p.Tyr256= | |
| NM_006765.3:c.768T>C | NP_006756.2:p.Tyr256= | |
| NM_178234.2:c.768T>C | NP_839952.1:p.Tyr256= | |
| XM_011544651.1:c.600T>C | XP_011542953.1:p.Tyr200= | |
| XM_011544652.1:c.600T>C | XP_011542954.1:p.Tyr200= | |
| XM_011544653.1:c.600T>C | XP_011542955.1:p.Tyr200= | |
| XM_011544654.1:c.600T>C | XP_011542956.1:p.Tyr200= | |
| NM_001356429.1:c.768T>C | NP_001343358.1:p.Tyr256= | |
| XM_011544651.3:c.600T>C | XP_011542953.1:p.Tyr200= | |
| XM_017013861.2:c.600T>C | XP_016869350.1:p.Tyr200= | |
| NM_001356429.2:c.768T>C | NP_001343358.1:p.Tyr256= | |
| NM_006765.4:c.768T>C MANE Select | NP_006756.2:p.Tyr256= |