Linked Data
ClinVar Variation Id:
719519
ClinVar RCV Id:
RCV000892679
dbSNP Id:
rs148958331
ExAC:
17:39777275 C / T
gnomAD v2:
17-39777275-C-T
gnomAD v3:
17-41621023-C-T
gnomAD v4:
17-41621023-C-T
COSMIC:
COSM1383219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41621023C>T , CM000679.2:g.41621023C>T | GRCh38 |
| NC_000017.10:g.39777275C>T , CM000679.1:g.39777275C>T | GRCh37 |
| NC_000017.9:g.37030801C>T | NCBI36 |
| NG_008625.1:g.8608G>A | |
| NG_009090.2:g.170690G>A , LRG_401:g.170690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.903G>A MANE Select | ENSP00000308452.8:p.Ser301= | |
| ENST00000649249.1:n.179G>A | ||
| ENST00000311208.12:c.903G>A | ENSP00000308452.8:p.Ser301= | |
| ENST00000493253.5:n.1290G>A | ||
| ENST00000540235.5:c.654G>A | ENSP00000441751.2:p.Ser218= | |
| NM_000422.2:c.903G>A | NP_000413.1:p.Ser301= | |
| NM_000422.3:c.903G>A MANE Select | NP_000413.1:p.Ser301= |