Linked Data
ClinVar Variation Id:
975030
ClinVar RCV Id:
RCV001251437
dbSNP Id:
rs3798220
ExAC:
6:160961137 T / C
gnomAD v2:
6-160961137-T-C
gnomAD v3:
6-160540105-T-C
gnomAD v4:
6-160540105-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160540105T>C , CM000668.2:g.160540105T>C | GRCh38 |
| NC_000006.11:g.160961137T>C , CM000668.1:g.160961137T>C | GRCh37 |
| NC_000006.10:g.160881127T>C | NCBI36 |
| NG_016147.1:g.131271A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316300.10:c.5673A>G MANE Select | ENSP00000321334.6:p.Ile1891Met | |
| ENST00000316300.9:c.5673A>G | ENSP00000321334.5:p.Ile1891Met | |
| NM_005577.2:c.5673A>G | NP_005568.2:p.Ile1891Met | |
| NM_005577.3:c.5673A>G | NP_005568.2:p.Ile1891Met | |
| NM_005577.4:c.5673A>G MANE Select | NP_005568.2:p.Ile1891Met |