Linked Data
ClinVar Variation Id:
318216
dbSNP Id:
rs546498421
ExAC:
16:1652442 G / C
gnomAD v2:
16-1652442-G-C
gnomAD v3:
16-1602441-G-C
gnomAD v4:
16-1602441-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1602441G>C , CM000678.2:g.1602441G>C | GRCh38 |
| NC_000016.9:g.1652442G>C , CM000678.1:g.1652442G>C | GRCh37 |
| NC_000016.8:g.1592443G>C | NCBI36 |
| NG_032783.1:g.14668C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.298C>G MANE Select | ENSP00000406012.2:p.Leu100Val | |
| ENST00000397417.6:c.298C>G | ENSP00000380562.2:p.Leu100Val | |
| ENST00000426508.6:c.298C>G | ENSP00000406012.2:p.Leu100Val | |
| ENST00000439987.6:n.359C>G | ||
| ENST00000566052.1:n.370C>G | ||
| ENST00000569646.5:c.298C>G | ENSP00000454781.1:p.Leu100Val | |
| ENST00000569812.1:c.298C>G | ENSP00000457092.1:p.Leu100Val | |
| NM_014714.3:c.298C>G | NP_055529.2:p.Leu100Val | |
| XM_005255725.3:c.298C>G | XP_005255782.1:p.Leu100Val | |
| XM_005255726.2:c.298C>G | XP_005255783.1:p.Leu100Val | |
| XM_006720989.2:c.298C>G | XP_006721052.1:p.Leu100Val | |
| XM_006720990.2:c.298C>G | XP_006721053.1:p.Leu100Val | |
| XM_006720991.2:c.298C>G | XP_006721054.1:p.Leu100Val | |
| XM_011522766.1:c.298C>G | XP_011521068.1:p.Leu100Val | |
| XM_011522768.1:c.298C>G | XP_011521070.1:p.Leu100Val | |
| XM_011522769.1:c.298C>G | XP_011521071.1:p.Leu100Val | |
| XM_011522771.1:c.298C>G | XP_011521073.1:p.Leu100Val | |
| XM_011522772.1:c.298C>G | XP_011521074.1:p.Leu100Val | |
| NR_135176.1:n.60-1974G>C | ||
| XM_005255725.5:c.298C>G | XP_005255782.1:p.Leu100Val | |
| XM_005255726.4:c.298C>G | XP_005255783.1:p.Leu100Val | |
| XM_006720990.3:c.298C>G | XP_006721053.1:p.Leu100Val | |
| XM_006720991.3:c.298C>G | XP_006721054.1:p.Leu100Val | |
| XM_011522766.3:c.298C>G | XP_011521068.1:p.Leu100Val | |
| XM_011522769.3:c.298C>G | XP_011521071.1:p.Leu100Val | |
| XM_011522771.3:c.298C>G | XP_011521073.1:p.Leu100Val | |
| XM_011522772.3:c.298C>G | XP_011521074.1:p.Leu100Val | |
| XM_017023910.1:c.298C>G | XP_016879399.1:p.Leu100Val | |
| XM_017023911.1:c.-1400C>G | XP_016879400.1:n.-1400C>G | |
| NM_014714.4:c.298C>G MANE Select | NP_055529.2:p.Leu100Val |