Linked Data
ClinVar Variation Id:
1345886
ClinVar RCV Id:
RCV002049967
dbSNP Id:
rs144014236
ExAC:
1:115220534 G / C
gnomAD v2:
1-115220534-G-C
gnomAD v3:
1-114677913-G-C
gnomAD v4:
1-114677913-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677913G>C , CM000663.2:g.114677913G>C | GRCh38 |
| NC_000001.10:g.115220534G>C , CM000663.1:g.115220534G>C | GRCh37 |
| NC_000001.9:g.115022057G>C | NCBI36 |
| NG_008012.1:g.22643C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1209C>G | ENSP00000358551.4:p.Ile403Met | |
| ENST00000520113.7:c.1221C>G MANE Select | ENSP00000430075.3:p.Ile407Met | |
| ENST00000637080.1:c.1004C>G | ENSP00000489753.1:n.1004C>G | |
| ENST00000639077.1:n.886C>G | ||
| ENST00000369538.3:c.1308C>G | ENSP00000358551.3:p.Ile436Met | |
| ENST00000520113.6:c.1320C>G | ENSP00000430075.2:p.Ile440Met | |
| NM_000036.2:c.1320C>G | NP_000027.2:p.Ile440Met | |
| NM_001172626.1:c.1308C>G | NP_001166097.1:p.Ile436Met | |
| NM_000036.3:c.1221C>G MANE Select | NP_000027.3:p.Ile407Met | |
| NM_001172626.2:c.1209C>G | NP_001166097.2:p.Ile403Met |