Linked Data
ClinVar Variation Id:
286963
ClinVar RCV Id:
RCV000342039
dbSNP Id:
rs143326637
ExAC:
16:21721277 G / A
gnomAD v2:
16-21721277-G-A
gnomAD v3:
16-21709956-G-A
gnomAD v4:
16-21709956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21709956G>A , CM000678.2:g.21709956G>A | GRCh38 |
| NC_000016.9:g.21721277G>A , CM000678.1:g.21721277G>A | GRCh37 |
| NC_000016.8:g.21628778G>A | NCBI36 |
| NG_012973.1:g.36443G>A | |
| NG_012973.2:g.50824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.1173G>A | ENSP00000373610.3:p.Ser391= | |
| ENST00000646100.2:c.1173G>A MANE Select | ENSP00000496564.2:p.Ser391= | |
| ENST00000647277.1:c.1049G>A | ENSP00000495594.1:p.Arg350Gln | |
| ENST00000286149.8:c.1215G>A | ENSP00000286149.4:p.Ser405= | |
| ENST00000388956.8:c.936G>A | ENSP00000373608.4:p.Ser312= | |
| ENST00000388957.3:c.201G>A | ENSP00000373609.3:p.Ser67= | |
| ENST00000388958.7:c.1173G>A | ENSP00000373610.3:p.Ser391= | |
| ENST00000563871.5:n.393G>A | ||
| NM_001161683.1:c.936G>A | NP_001155155.1:p.Ser312= | |
| NM_144672.3:c.1173G>A | NP_653273.3:p.Ser391= | |
| NM_170664.2:c.201G>A | NP_733764.1:p.Ser67= | |
| XM_011545747.1:c.1173G>A | XP_011544049.1:p.Ser391= | |
| XM_011545748.1:c.42G>A | XP_011544050.1:p.Ser14= | |
| NM_144672.4:c.1173G>A MANE Select | NP_653273.3:p.Ser391= | |
| XM_011545748.2:c.42G>A | XP_011544050.2:p.Ser14= | |
| XR_002957775.1:n.268G>A | ||
| NM_001161683.2:c.936G>A | NP_001155155.1:p.Ser312= | |
| NM_170664.3:c.201G>A | NP_733764.1:p.Ser67= |