Linked Data
ClinVar Variation Id:
307781
ClinVar RCV Id:
RCV000301976
dbSNP Id:
rs114575851
ExAC:
12:15130918 G / C
gnomAD v2:
12-15130918-G-C
gnomAD v3:
12-14977984-G-C
gnomAD v4:
12-14977984-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14977984G>C , CM000674.2:g.14977984G>C | GRCh38 |
| NC_000012.11:g.15130918G>C , CM000674.1:g.15130918G>C | GRCh37 |
| NC_000012.10:g.15022185G>C | NCBI36 |
| NG_016859.1:g.9963G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266395.3:c.-29G>C MANE Select | ENSP00000266395.2:n.-29G>C | |
| ENST00000266395.2:c.-29G>C | ENSP00000266395.2:n.-29G>C | |
| NM_006205.2:c.-29G>C | NP_006196.1:n.-29G>C | |
| XR_931376.1:n.175+11503C>G | ||
| XM_017019431.2:c.-29G>C | XP_016874920.1:n.-29G>C | |
| XR_931376.2:n.389+11503C>G | ||
| NM_006205.3:c.-29G>C MANE Select | NP_006196.1:n.-29G>C |