Linked Data
ClinVar Variation Id:
135706
ClinVar RCV Id:
RCV000122784
RCV000129088
RCV001157159
RCV000479916
RCV003389701
RCV003534358
RCV000587086
dbSNP Id:
rs148275069
ExAC:
5:112176431 G / A
gnomAD v2:
5-112176431-G-A
gnomAD v3:
5-112840734-G-A
gnomAD v4:
5-112840734-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840734G>A , CM000667.2:g.112840734G>A | GRCh38 |
| NC_000005.9:g.112176431G>A , CM000667.1:g.112176431G>A | GRCh37 |
| NC_000005.8:g.112204330G>A | NCBI36 |
| NG_008481.4:g.153214G>A , LRG_130:g.153214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5194G>A | ENSP00000473355.2:p.Asp1732Asn | |
| ENST00000505350.2:c.*5146G>A | ENSP00000481752.1:n.*5146G>A | |
| ENST00000507379.6:c.5086G>A | ENSP00000423224.2:p.Asp1696Asn | |
| ENST00000509732.6:c.5140G>A | ENSP00000426541.2:p.Asp1714Asn | |
| ENST00000512211.7:c.5140G>A | ENSP00000423828.3:p.Asp1714Asn | |
| ENST00000257430.9:c.5140G>A MANE Select | ENSP00000257430.4:p.Asp1714Asn | |
| ENST00000257430.8:c.5140G>A | ENSP00000257430.4:p.Asp1714Asn | |
| ENST00000508376.6:c.5140G>A | ENSP00000427089.2:p.Asp1714Asn | |
| ENST00000508624.5:c.*4462G>A | ENSP00000424265.1:n.*4462G>A | |
| ENST00000520401.1:c.230+11762G>A | ||
| NM_000038.5:c.5140G>A | NP_000029.2:p.Asp1714Asn | |
| NM_001127510.2:c.5140G>A | NP_001120982.1:p.Asp1714Asn | |
| NM_001127511.2:c.5086G>A | NP_001120983.2:p.Asp1696Asn | |
| NM_001354895.1:c.5140G>A | NP_001341824.1:p.Asp1714Asn | |
| NM_001354896.1:c.5194G>A | NP_001341825.1:p.Asp1732Asn | |
| NM_001354897.1:c.5170G>A | NP_001341826.1:p.Asp1724Asn | |
| NM_001354898.1:c.5065G>A | NP_001341827.1:p.Asp1689Asn | |
| NM_001354899.1:c.5056G>A | NP_001341828.1:p.Asp1686Asn | |
| NM_001354900.1:c.5017G>A | NP_001341829.1:p.Asp1673Asn | |
| NM_001354901.1:c.4963G>A | NP_001341830.1:p.Asp1655Asn | |
| NM_001354902.1:c.4867G>A | NP_001341831.1:p.Asp1623Asn | |
| NM_001354903.1:c.4837G>A | NP_001341832.1:p.Asp1613Asn | |
| NM_001354904.1:c.4762G>A | NP_001341833.1:p.Asp1588Asn | |
| NM_001354905.1:c.4660G>A | NP_001341834.1:p.Asp1554Asn | |
| NM_001354906.1:c.4291G>A | NP_001341835.1:p.Asp1431Asn | |
| NM_000038.6:c.5140G>A MANE Select | NP_000029.2:p.Asp1714Asn | |
| NM_001127510.3:c.5140G>A | NP_001120982.1:p.Asp1714Asn | |
| NM_001127511.3:c.5086G>A | NP_001120983.2:p.Asp1696Asn | |
| NM_001354895.2:c.5140G>A | NP_001341824.1:p.Asp1714Asn | |
| NM_001354896.2:c.5194G>A | NP_001341825.1:p.Asp1732Asn | |
| NM_001354897.2:c.5170G>A | NP_001341826.1:p.Asp1724Asn | |
| NM_001354898.2:c.5065G>A | NP_001341827.1:p.Asp1689Asn | |
| NM_001354899.2:c.5056G>A | NP_001341828.1:p.Asp1686Asn | |
| NM_001354900.2:c.5017G>A | NP_001341829.1:p.Asp1673Asn | |
| NM_001354901.2:c.4963G>A | NP_001341830.1:p.Asp1655Asn | |
| NM_001354902.2:c.4867G>A | NP_001341831.1:p.Asp1623Asn | |
| NM_001354903.2:c.4837G>A | NP_001341832.1:p.Asp1613Asn | |
| NM_001354904.2:c.4762G>A | NP_001341833.1:p.Asp1588Asn | |
| NM_001354905.2:c.4660G>A | NP_001341834.1:p.Asp1554Asn | |
| NM_001354906.2:c.4291G>A | NP_001341835.1:p.Asp1431Asn |