Linked Data
ClinVar Variation Id:
426867
ClinVar RCV Id:
RCV000488970
dbSNP Id:
rs144168442
gnomAD v2:
1-215853514-T-C
gnomAD v3:
1-215680172-T-C
gnomAD v4:
1-215680172-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215680172T>C , CM000663.2:g.215680172T>C | GRCh38 |
| NC_000001.10:g.215853514T>C , CM000663.1:g.215853514T>C | GRCh37 |
| NC_000001.9:g.213920137T>C | NCBI36 |
| NG_009497.1:g.748225A>G | |
| NG_009497.2:g.748277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12271A>G MANE Select | ENSP00000305941.3:p.Met4091Val | |
| ENST00000674083.1:c.12271A>G | ENSP00000501296.1:p.Met4091Val | |
| ENST00000307340.7:c.12271A>G | ENSP00000305941.3:p.Met4091Val | |
| NM_206933.2:c.12271A>G | NP_996816.2:p.Met4091Val | |
| NM_206933.3:c.12271A>G | NP_996816.2:p.Met4091Val | |
| NM_206933.4:c.12271A>G MANE Select | NP_996816.3:p.Met4091Val |