Linked Data
ClinVar Variation Id:
41514
ClinVar RCV Id:
RCV000034399
RCV000077994
RCV000157722
RCV000239067
RCV000307201
RCV001353410
RCV003315545
dbSNP Id:
rs2229995
ExAC:
5:112178795 G / A
gnomAD v2:
5-112178795-G-A
gnomAD v3:
5-112843098-G-A
gnomAD v4:
5-112843098-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843098G>A , CM000667.2:g.112843098G>A | GRCh38 |
| NC_000005.9:g.112178795G>A , CM000667.1:g.112178795G>A | GRCh37 |
| NC_000005.8:g.112206694G>A | NCBI36 |
| NG_008481.4:g.155578G>A , LRG_130:g.155578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7558G>A | ENSP00000473355.2:p.Gly2520Ser | |
| ENST00000505350.2:c.*7510G>A | ENSP00000481752.1:n.*7510G>A | |
| ENST00000507379.6:c.7450G>A | ENSP00000423224.2:p.Gly2484Ser | |
| ENST00000509732.6:c.7504G>A | ENSP00000426541.2:p.Gly2502Ser | |
| ENST00000512211.7:c.7504G>A | ENSP00000423828.3:p.Gly2502Ser | |
| ENST00000257430.9:c.7504G>A MANE Select | ENSP00000257430.4:p.Gly2502Ser | |
| ENST00000257430.8:c.7504G>A | ENSP00000257430.4:p.Gly2502Ser | |
| ENST00000508376.6:c.7504G>A | ENSP00000427089.2:p.Gly2502Ser | |
| ENST00000520401.1:c.231-13551G>A | ||
| NM_000038.5:c.7504G>A | NP_000029.2:p.Gly2502Ser | |
| NM_001127510.2:c.7504G>A | NP_001120982.1:p.Gly2502Ser | |
| NM_001127511.2:c.7450G>A | NP_001120983.2:p.Gly2484Ser | |
| NM_001354895.1:c.7504G>A | NP_001341824.1:p.Gly2502Ser | |
| NM_001354896.1:c.7558G>A | NP_001341825.1:p.Gly2520Ser | |
| NM_001354897.1:c.7534G>A | NP_001341826.1:p.Gly2512Ser | |
| NM_001354898.1:c.7429G>A | NP_001341827.1:p.Gly2477Ser | |
| NM_001354899.1:c.7420G>A | NP_001341828.1:p.Gly2474Ser | |
| NM_001354900.1:c.7381G>A | NP_001341829.1:p.Gly2461Ser | |
| NM_001354901.1:c.7327G>A | NP_001341830.1:p.Gly2443Ser | |
| NM_001354902.1:c.7231G>A | NP_001341831.1:p.Gly2411Ser | |
| NM_001354903.1:c.7201G>A | NP_001341832.1:p.Gly2401Ser | |
| NM_001354904.1:c.7126G>A | NP_001341833.1:p.Gly2376Ser | |
| NM_001354905.1:c.7024G>A | NP_001341834.1:p.Gly2342Ser | |
| NM_001354906.1:c.6655G>A | NP_001341835.1:p.Gly2219Ser | |
| NM_000038.6:c.7504G>A MANE Select | NP_000029.2:p.Gly2502Ser | |
| NM_001127510.3:c.7504G>A | NP_001120982.1:p.Gly2502Ser | |
| NM_001127511.3:c.7450G>A | NP_001120983.2:p.Gly2484Ser | |
| NM_001354895.2:c.7504G>A | NP_001341824.1:p.Gly2502Ser | |
| NM_001354896.2:c.7558G>A | NP_001341825.1:p.Gly2520Ser | |
| NM_001354897.2:c.7534G>A | NP_001341826.1:p.Gly2512Ser | |
| NM_001354898.2:c.7429G>A | NP_001341827.1:p.Gly2477Ser | |
| NM_001354899.2:c.7420G>A | NP_001341828.1:p.Gly2474Ser | |
| NM_001354900.2:c.7381G>A | NP_001341829.1:p.Gly2461Ser | |
| NM_001354901.2:c.7327G>A | NP_001341830.1:p.Gly2443Ser | |
| NM_001354902.2:c.7231G>A | NP_001341831.1:p.Gly2411Ser | |
| NM_001354903.2:c.7201G>A | NP_001341832.1:p.Gly2401Ser | |
| NM_001354904.2:c.7126G>A | NP_001341833.1:p.Gly2376Ser | |
| NM_001354905.2:c.7024G>A | NP_001341834.1:p.Gly2342Ser | |
| NM_001354906.2:c.6655G>A | NP_001341835.1:p.Gly2219Ser |