Linked Data
ClinVar Variation Id:
166480
dbSNP Id:
rs192115090
ExAC:
1:216172258 G / C
gnomAD v2:
1-216172258-G-C
gnomAD v3:
1-215998916-G-C
gnomAD v4:
1-215998916-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215998916G>C , CM000663.2:g.215998916G>C | GRCh38 |
| NC_000001.10:g.216172258G>C , CM000663.1:g.216172258G>C | GRCh37 |
| NC_000001.9:g.214238881G>C | NCBI36 |
| NG_009497.1:g.429481C>G | |
| NG_009497.2:g.429533C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6628C>G MANE Select | ENSP00000305941.3:p.Pro2210Ala | |
| ENST00000674083.1:c.6628C>G | ENSP00000501296.1:p.Pro2210Ala | |
| ENST00000307340.7:c.6628C>G | ENSP00000305941.3:p.Pro2210Ala | |
| NM_206933.2:c.6628C>G | NP_996816.2:p.Pro2210Ala | |
| NM_206933.3:c.6628C>G | NP_996816.2:p.Pro2210Ala | |
| NM_206933.4:c.6628C>G MANE Select | NP_996816.3:p.Pro2210Ala |