Linked Data
dbSNP Id:
rs1221285691
gnomAD v2:
17-18049340-A-G
gnomAD v3:
17-18146026-A-G
gnomAD v4:
17-18146026-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18146026A>G , CM000679.2:g.18146026A>G | GRCh38 |
| NC_000017.10:g.18049340A>G , CM000679.1:g.18049340A>G | GRCh37 |
| NC_000017.9:g.17990065A>G | NCBI36 |
| NG_011634.1:g.42321A>G | |
| NG_011634.2:g.42321A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6428A>G MANE Select | ENSP00000495481.1:p.Asn2143Ser | |
| ENST00000205890.9:c.6428A>G | ENSP00000205890.5:p.Asn2143Ser | |
| ENST00000578999.1:n.13A>G | ||
| ENST00000615845.4:c.6428A>G | ENSP00000481642.1:p.Asn2143Ser | |
| NM_016239.3:c.6428A>G | NP_057323.3:p.Asn2143Ser | |
| XM_011523917.1:c.6368A>G | XP_011522219.1:p.Asn2123Ser | |
| XM_011523918.1:c.6342+26A>G | XP_011522220.1:n.6342+26A>G | |
| XM_011523921.1:c.6422A>G | XP_011522223.1:p.Asn2141Ser | |
| XR_934037.1:n.7027A>G | ||
| XR_934038.1:n.7027A>G | ||
| XM_011523918.2:c.6342+26A>G | XP_011522220.1:n.6342+26A>G | |
| XM_017024714.2:c.6368A>G | XP_016880203.1:p.Asn2123Ser | |
| XM_017024715.2:c.6431A>G | XP_016880204.1:p.Asn2144Ser | |
| XM_024450781.1:c.6213+1434A>G | XP_024306549.1:n.6213+1434A>G | |
| NM_016239.4:c.6428A>G MANE Select | NP_057323.3:p.Asn2143Ser |