Linked Data
dbSNP Id:
rs749359456
ExAC:
17:39780519 A / G
gnomAD v2:
17-39780519-A-G
gnomAD v3:
17-41624267-A-G
gnomAD v4:
17-41624267-A-G
COSMIC:
COSM4579691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624267A>G , CM000679.2:g.41624267A>G | GRCh38 |
| NC_000017.10:g.39780519A>G , CM000679.1:g.39780519A>G | GRCh37 |
| NC_000017.9:g.37034045A>G | NCBI36 |
| NG_008625.1:g.5364T>C | |
| NG_009090.2:g.167446T>C , LRG_401:g.167446T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.243T>C MANE Select | ENSP00000308452.8:p.Ala81= | |
| ENST00000311208.12:c.243T>C | ENSP00000308452.8:p.Ala81= | |
| ENST00000463128.5:c.-312-61T>C | ENSP00000468672.1:n.-312-61T>C | |
| ENST00000491673.1:n.309T>C | ||
| ENST00000493253.5:n.30T>C | ||
| ENST00000540235.5:c.38T>C | ENSP00000441751.2:p.Leu13Pro | |
| ENST00000577817.3:c.198T>C | ENSP00000467418.1:p.Ala66= | |
| NM_000422.2:c.243T>C | NP_000413.1:p.Ala81= | |
| NM_000422.3:c.243T>C MANE Select | NP_000413.1:p.Ala81= |