Linked Data
dbSNP Id:
rs1246618493
gnomAD v2:
17-18062649-G-A
gnomAD v3:
17-18159335-G-A
gnomAD v4:
17-18159335-G-A
COSMIC:
COSM1381300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18159335G>A , CM000679.2:g.18159335G>A | GRCh38 |
| NC_000017.10:g.18062649G>A , CM000679.1:g.18062649G>A | GRCh37 |
| NC_000017.9:g.18003374G>A | NCBI36 |
| NG_011634.1:g.55630G>A | |
| NG_011634.2:g.55630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1555G>A | ||
| ENST00000643693.1:n.1019G>A | ||
| ENST00000644795.1:c.1009G>A | ENSP00000495720.1:p.Asp337Asn | |
| ENST00000646782.1:n.1951G>A | ||
| ENST00000647165.2:c.9217G>A MANE Select | ENSP00000495481.1:p.Asp3073Asn | |
| ENST00000651214.1:n.1722G>A | ||
| ENST00000205890.9:c.9217G>A | ENSP00000205890.5:p.Asp3073Asn | |
| ENST00000418233.7:c.1009G>A | ENSP00000408800.3:p.Asp337Asn | |
| ENST00000433411.7:n.154G>A | ||
| ENST00000445289.6:n.316+1435G>A | ||
| ENST00000556535.5:c.79G>A | ENSP00000451782.1:p.Asp27Asn | |
| ENST00000557190.5:n.119G>A | ||
| ENST00000557655.5:c.79G>A | ENSP00000451925.1:p.Asp27Asn | |
| ENST00000578472.5:c.79G>A | ENSP00000467989.1:p.Asp27Asn | |
| ENST00000615845.4:c.9217G>A | ENSP00000481642.1:p.Asp3073Asn | |
| NM_016239.3:c.9217G>A | NP_057323.3:p.Asp3073Asn | |
| XM_011523921.1:c.9211G>A | XP_011522223.1:p.Asp3071Asn | |
| XM_017024714.2:c.9157G>A | XP_016880203.1:p.Asp3053Asn | |
| XM_017024715.2:c.9220G>A | XP_016880204.1:p.Asp3074Asn | |
| NM_016239.4:c.9217G>A MANE Select | NP_057323.3:p.Asp3073Asn |