Linked Data
ClinVar Variation Id:
66128
ClinVar RCV Id:
RCV001730494
dbSNP Id:
rs11650915
ExAC:
17:39023396 G / A
gnomAD v2:
17-39023396-G-A
gnomAD v3:
17-40867144-G-A
gnomAD v4:
17-40867144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867144G>A , CM000679.2:g.40867144G>A | GRCh38 |
| NC_000017.10:g.39023396G>A , CM000679.1:g.39023396G>A | GRCh37 |
| NC_000017.9:g.36276922G>A | NCBI36 |
| NG_008077.1:g.5067C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251643.5:c.43C>T MANE Select | ENSP00000251643.4:p.Pro15Ser | |
| ENST00000647902.1:c.43C>T | ENSP00000497770.1:p.Pro15Ser | |
| ENST00000251643.4:c.43C>T | ENSP00000251643.4:p.Pro15Ser | |
| NM_000223.3:c.43C>T | NP_000214.1:p.Pro15Ser | |
| XR_934754.1:n.1500+16284G>A | ||
| XR_934754.2:n.2008+16284G>A | ||
| NM_000223.4:c.43C>T MANE Select | NP_000214.1:p.Pro15Ser |