Linked Data
dbSNP Id:
rs552541120
ExAC:
17:39780564 A / G
gnomAD v2:
17-39780564-A-G
gnomAD v3:
17-41624312-A-G
gnomAD v4:
17-41624312-A-G
COSMIC:
COSM4579692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624312A>G , CM000679.2:g.41624312A>G | GRCh38 |
| NC_000017.10:g.39780564A>G , CM000679.1:g.39780564A>G | GRCh37 |
| NC_000017.9:g.37034090A>G | NCBI36 |
| NG_008625.1:g.5319T>C | |
| NG_009090.2:g.167401T>C , LRG_401:g.167401T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.198T>C MANE Select | ENSP00000308452.8:p.Gly66= | |
| ENST00000311208.12:c.198T>C | ENSP00000308452.8:p.Gly66= | |
| ENST00000463128.5:c.-312-106T>C | ENSP00000468672.1:n.-312-106T>C | |
| ENST00000491673.1:n.264T>C | ||
| ENST00000540235.5:c.-8T>C | ENSP00000441751.2:n.-8T>C | |
| ENST00000577817.3:c.153T>C | ENSP00000467418.1:p.Gly51= | |
| NM_000422.2:c.198T>C | NP_000413.1:p.Gly66= | |
| NM_000422.3:c.198T>C MANE Select | NP_000413.1:p.Gly66= |