Linked Data
ClinVar Variation Id:
730718
ClinVar RCV Id:
RCV000905559
dbSNP Id:
rs146551531
ExAC:
17:47899113 G / A
gnomAD v2:
17-47899113-G-A
gnomAD v3:
17-49821751-G-A
gnomAD v4:
17-49821751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49821751G>A , CM000679.2:g.49821751G>A | GRCh38 |
| NC_000017.10:g.47899113G>A , CM000679.1:g.47899113G>A | GRCh37 |
| NC_000017.9:g.45254112G>A | NCBI36 |
| NG_051976.1:g.38133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710381.1:c.1425G>A | ENSP00000518238.1:p.Ala475= | |
| ENST00000503635.2:c.1347G>A | ENSP00000516420.1:p.Ala449= | |
| ENST00000506533.6:c.879G>A | ENSP00000421368.2:p.Ala293= | |
| ENST00000514540.6:c.306G>A | ENSP00000516426.1:p.Ala102= | |
| ENST00000706506.1:c.1257G>A | ENSP00000516419.1:p.Ala419= | |
| ENST00000706507.1:n.1534G>A | ||
| ENST00000706508.1:c.1155G>A | ENSP00000516421.1:p.Ala385= | |
| ENST00000706509.1:c.1065G>A | ENSP00000516422.1:p.Ala355= | |
| ENST00000706510.1:n.1757G>A | ||
| ENST00000706511.1:c.1017G>A | ENSP00000516423.1:p.Ala339= | |
| ENST00000706512.1:n.1417G>A | ||
| ENST00000706513.1:c.1254G>A | ENSP00000516424.1:p.Ala418= | |
| ENST00000706629.1:c.1245G>A | ENSP00000516474.1:p.Ala415= | |
| ENST00000706630.1:n.1417G>A | ||
| ENST00000706637.1:c.1158G>A | ENSP00000516477.1:p.Ala386= | |
| ENST00000706638.1:c.1257G>A | ENSP00000516478.1:p.Ala419= | |
| ENST00000706639.1:n.1417G>A | ||
| ENST00000706640.1:c.1107G>A | ENSP00000516479.1:p.Ala369= | |
| ENST00000706641.1:n.691G>A | ||
| ENST00000706642.1:c.12G>A | ENSP00000516480.1:p.Ala4= | |
| ENST00000259021.9:c.1347G>A MANE Select | ENSP00000259021.4:p.Ala449= | |
| ENST00000675278.1:c.1347G>A | ENSP00000502732.1:p.Ala449= | |
| ENST00000259021.8:c.1347G>A | ENSP00000259021.4:p.Ala449= | |
| ENST00000424009.6:c.1257G>A | ENSP00000398961.2:p.Ala419= | |
| ENST00000435742.2:c.789G>A | ENSP00000409477.2:p.Ala263= | |
| ENST00000454930.6:c.930G>A | ENSP00000413415.2:p.Ala310= | |
| ENST00000509773.5:c.1017G>A | ENSP00000424577.1:p.Ala339= | |
| ENST00000509794.5:n.259G>A | ||
| ENST00000510426.1:n.67G>A | ||
| ENST00000510819.5:c.840G>A | ENSP00000423385.1:p.Ala280= | |
| ENST00000512616.5:n.718G>A | ||
| ENST00000513171.5:n.618G>A | ||
| ENST00000513980.5:n.584G>A | ||
| ENST00000514540.5:n.347G>A | ||
| NM_001199155.1:c.1257G>A | NP_001186084.1:p.Ala419= | |
| NM_001199156.1:c.930G>A | NP_001186085.1:p.Ala310= | |
| NM_001199157.1:c.1017G>A | NP_001186086.1:p.Ala339= | |
| NM_001199158.1:c.840G>A | NP_001186087.1:p.Ala280= | |
| NM_007067.4:c.1347G>A | NP_008998.1:p.Ala449= | |
| XM_011524235.1:c.498G>A | XP_011522537.1:p.Ala166= | |
| NM_001346706.1:c.1107G>A | NP_001333635.1:p.Ala369= | |
| XM_011524235.3:c.498G>A | XP_011522537.1:p.Ala166= | |
| NM_007067.5:c.1347G>A MANE Select | NP_008998.1:p.Ala449= | |
| NM_001199155.2:c.1257G>A | NP_001186084.1:p.Ala419= | |
| NM_001199156.2:c.930G>A | NP_001186085.1:p.Ala310= | |
| NM_001199157.2:c.1017G>A | NP_001186086.1:p.Ala339= | |
| NM_001199158.2:c.840G>A | NP_001186087.1:p.Ala280= | |
| NM_001346706.2:c.1107G>A | NP_001333635.1:p.Ala369= |