Linked Data
ClinVar Variation Id:
239429
ClinVar RCV Id:
RCV000227754
RCV000568674
RCV000708787
RCV000763773
RCV000986265
RCV001294087
RCV001575148
RCV002291606
dbSNP Id:
rs140178341
ExAC:
1:17355211 T / C
gnomAD v2:
1-17355211-T-C
gnomAD v3:
1-17028716-T-C
gnomAD v4:
1-17028716-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028716T>C , CM000663.2:g.17028716T>C | GRCh38 |
| NC_000001.10:g.17355211T>C , CM000663.1:g.17355211T>C | GRCh37 |
| NC_000001.9:g.17227798T>C | NCBI36 |
| NG_012340.1:g.30455A>G , LRG_316:g.30455A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.136A>G | ENSP00000481376.2:p.Met46Val | |
| ENST00000491274.6:c.265A>G | ENSP00000480482.2:p.Met89Val | |
| ENST00000375499.8:c.307A>G MANE Select | ENSP00000364649.3:p.Met103Val | |
| ENST00000375499.7:c.307A>G | ENSP00000364649.3:p.Met103Val | |
| ENST00000463045.2:c.136A>G | ENSP00000481376.1:p.Met46Val | |
| ENST00000475506.1:n.224A>G | ||
| ENST00000485515.5:n.295A>G | ||
| ENST00000491274.5:c.265A>G | ENSP00000480482.1:p.Met89Val | |
| NM_003000.2:c.307A>G , LRG_316t1:c.307A>G | NP_002991.2:p.Met103Val | |
| NM_003000.3:c.307A>G MANE Select | NP_002991.2:p.Met103Val |