Linked Data
dbSNP Id:
rs775138577
ExAC:
11:68703881 G / T
gnomAD v2:
11-68703881-G-T
gnomAD v4:
11-68936413-G-T
COSMIC:
COSM4146226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936413G>T , CM000673.2:g.68936413G>T | GRCh38 |
| NC_000011.9:g.68703881G>T , CM000673.1:g.68703881G>T | GRCh37 |
| NC_000011.8:g.68460457G>T | NCBI36 |
| NG_007976.1:g.37563G>T , LRG_250:g.37563G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1933G>T MANE Select | ENSP00000255078.4:p.Asp645Tyr | |
| ENST00000674675.1:c.177G>T | ||
| ENST00000674878.1:c.177G>T | ||
| ENST00000674955.1:c.*650G>T | ENSP00000502463.1:n.*650G>T | |
| ENST00000675118.1:c.1421G>T | ||
| ENST00000675389.1:n.208G>T | ||
| ENST00000675615.1:c.1933G>T | ENSP00000502413.1:p.Asp645Tyr | |
| ENST00000675648.1:n.1308G>T | ||
| ENST00000675916.1:c.177G>T | ||
| ENST00000676173.1:n.2678G>T | ||
| ENST00000676182.1:c.364G>T | ||
| ENST00000676228.1:c.*1256G>T | ENSP00000502375.1:n.*1256G>T | |
| ENST00000255078.7:c.1933G>T | ENSP00000255078.3:p.Asp645Tyr | |
| ENST00000539064.5:n.1692G>T | ||
| ENST00000543739.5:n.926G>T | ||
| ENST00000545475.1:n.529G>T | ||
| NM_002180.2:c.1933G>T , LRG_250t1:c.1933G>T | NP_002171.2:p.Asp645Tyr | |
| XM_005273974.2:c.922G>T | XP_005274031.1:p.Asp308Tyr | |
| XM_005273975.2:c.805G>T | XP_005274032.1:p.Asp269Tyr | |
| XM_011544994.1:c.700G>T | XP_011543296.1:p.Asp234Tyr | |
| XR_949903.1:n.2035G>T | ||
| XM_005273975.3:c.805G>T | XP_005274032.1:p.Asp269Tyr | |
| XM_017017669.2:c.922G>T | XP_016873158.1:p.Asp308Tyr | |
| XM_017017670.2:c.922G>T | XP_016873159.1:p.Asp308Tyr | |
| XR_949903.3:n.2031G>T | ||
| NM_002180.3:c.1933G>T MANE Select | NP_002171.2:p.Asp645Tyr |