Linked Data
ClinVar Variation Id:
380365
dbSNP Id:
rs62000377
ExAC:
16:89349377 G / C
gnomAD v2:
16-89349377-G-C
gnomAD v3:
16-89282969-G-C
gnomAD v4:
16-89282969-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89282969G>C , CM000678.2:g.89282969G>C | GRCh38 |
| NC_000016.9:g.89349377G>C , CM000678.1:g.89349377G>C | GRCh37 |
| NC_000016.8:g.87876878G>C | NCBI36 |
| NG_032003.1:g.212593C>G | |
| NG_032003.2:g.212593C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301030.10:c.3573C>G MANE Select | ENSP00000301030.4:p.Ala1191= | |
| ENST00000330736.10:c.*3376C>G | ENSP00000330815.5:n.*3376C>G | |
| ENST00000378330.7:c.3573C>G | ENSP00000367581.2:p.Ala1191= | |
| ENST00000642600.1:c.3573C>G | ENSP00000495226.1:p.Ala1191= | |
| ENST00000644285.1:c.744+5559C>G | ENSP00000496476.1:n.744+5559C>G | |
| ENST00000301030.8:c.3573C>G | ENSP00000301030.4:p.Ala1191= | |
| ENST00000330736.9:c.*3376C>G | ENSP00000330815.5:n.*3376C>G | |
| ENST00000378330.6:c.3573C>G | ENSP00000367581.2:p.Ala1191= | |
| ENST00000562194.1:c.151+5559C>G | ||
| NM_001256182.1:c.3573C>G | NP_001243111.1:p.Ala1191= | |
| NM_001256183.1:c.3573C>G | NP_001243112.1:p.Ala1191= | |
| NM_013275.5:c.3573C>G | NP_037407.4:p.Ala1191= | |
| XM_006721181.1:c.3471C>G | XP_006721244.1:p.Ala1157= | |
| XM_006721184.2:c.3276C>G | XP_006721247.1:p.Ala1092= | |
| XM_011523051.1:c.3573C>G | XP_011521353.1:p.Ala1191= | |
| XM_011523052.1:c.3573C>G | XP_011521354.1:p.Ala1191= | |
| XM_011523053.1:c.3573C>G | XP_011521355.1:p.Ala1191= | |
| XM_011523054.1:c.3471C>G | XP_011521356.1:p.Ala1157= | |
| XM_011523055.1:c.3471C>G | XP_011521357.1:p.Ala1157= | |
| XM_011523056.1:c.3444C>G | XP_011521358.1:p.Ala1148= | |
| XM_011523057.1:c.3573C>G | XP_011521359.1:p.Ala1191= | |
| XM_011523051.3:c.3573C>G | XP_011521353.1:p.Ala1191= | |
| XM_011523053.2:c.3573C>G | XP_011521355.1:p.Ala1191= | |
| XM_011523054.2:c.3471C>G | XP_011521356.1:p.Ala1157= | |
| XM_011523055.2:c.3471C>G | XP_011521357.1:p.Ala1157= | |
| XM_011523056.2:c.3444C>G | XP_011521358.1:p.Ala1148= | |
| XM_011523057.2:c.3573C>G | XP_011521359.1:p.Ala1191= | |
| XM_017023182.2:c.3573C>G | XP_016878671.1:p.Ala1191= | |
| XM_017023183.1:c.3573C>G | XP_016878672.1:p.Ala1191= | |
| XM_017023184.1:c.3573C>G | XP_016878673.1:p.Ala1191= | |
| XM_017023185.1:c.3573C>G | XP_016878674.1:p.Ala1191= | |
| XM_017023186.1:c.3573C>G | XP_016878675.1:p.Ala1191= | |
| XM_017023187.1:c.3573C>G | XP_016878676.1:p.Ala1191= | |
| XM_024450244.1:c.3471C>G | XP_024306012.1:p.Ala1157= | |
| NM_013275.6:c.3573C>G MANE Select | NP_037407.4:p.Ala1191= | |
| NM_001256182.2:c.3573C>G | NP_001243111.1:p.Ala1191= | |
| NM_001256183.2:c.3573C>G | NP_001243112.1:p.Ala1191= |