Linked Data
ClinVar Variation Id:
934037
ClinVar RCV Id:
RCV003650659
dbSNP Id:
rs1765326033
gnomAD v4:
5-112838649-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838649G>A , CM000667.2:g.112838649G>A | GRCh38 |
| NC_000005.9:g.112174346G>A , CM000667.1:g.112174346G>A | GRCh37 |
| NC_000005.8:g.112202245G>A | NCBI36 |
| NG_008481.4:g.151129G>A , LRG_130:g.151129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2720G>A | ENSP00000484935.2:n.2720G>A | |
| ENST00000504915.3:c.3109G>A | ENSP00000473355.2:p.Gly1037Arg | |
| ENST00000505350.2:c.*3061G>A | ENSP00000481752.1:n.*3061G>A | |
| ENST00000507379.6:c.3001G>A | ENSP00000423224.2:p.Gly1001Arg | |
| ENST00000509732.6:c.3055G>A | ENSP00000426541.2:p.Gly1019Arg | |
| ENST00000512211.7:c.3055G>A | ENSP00000423828.3:p.Gly1019Arg | |
| ENST00000257430.9:c.3055G>A MANE Select | ENSP00000257430.4:p.Gly1019Arg | |
| ENST00000257430.8:c.3055G>A | ENSP00000257430.4:p.Gly1019Arg | |
| ENST00000502371.2:c.1408G>A | ||
| ENST00000507379.5:c.3001G>A | ENSP00000423224.1:p.Gly1001Arg | |
| ENST00000508376.6:c.3055G>A | ENSP00000427089.2:p.Gly1019Arg | |
| ENST00000508624.5:c.*2377G>A | ENSP00000424265.1:n.*2377G>A | |
| ENST00000512211.6:c.3055G>A | ENSP00000423828.2:p.Gly1019Arg | |
| ENST00000520401.1:c.230+9677G>A | ||
| NM_000038.5:c.3055G>A | NP_000029.2:p.Gly1019Arg | |
| NM_001127510.2:c.3055G>A | NP_001120982.1:p.Gly1019Arg | |
| NM_001127511.2:c.3001G>A | NP_001120983.2:p.Gly1001Arg | |
| NM_001354895.1:c.3055G>A | NP_001341824.1:p.Gly1019Arg | |
| NM_001354896.1:c.3109G>A | NP_001341825.1:p.Gly1037Arg | |
| NM_001354897.1:c.3085G>A | NP_001341826.1:p.Gly1029Arg | |
| NM_001354898.1:c.2980G>A | NP_001341827.1:p.Gly994Arg | |
| NM_001354899.1:c.2971G>A | NP_001341828.1:p.Gly991Arg | |
| NM_001354900.1:c.2932G>A | NP_001341829.1:p.Gly978Arg | |
| NM_001354901.1:c.2878G>A | NP_001341830.1:p.Gly960Arg | |
| NM_001354902.1:c.2782G>A | NP_001341831.1:p.Gly928Arg | |
| NM_001354903.1:c.2752G>A | NP_001341832.1:p.Gly918Arg | |
| NM_001354904.1:c.2677G>A | NP_001341833.1:p.Gly893Arg | |
| NM_001354905.1:c.2575G>A | NP_001341834.1:p.Gly859Arg | |
| NM_001354906.1:c.2206G>A | NP_001341835.1:p.Gly736Arg | |
| NM_000038.6:c.3055G>A MANE Select | NP_000029.2:p.Gly1019Arg | |
| NM_001127510.3:c.3055G>A | NP_001120982.1:p.Gly1019Arg | |
| NM_001127511.3:c.3001G>A | NP_001120983.2:p.Gly1001Arg | |
| NM_001354895.2:c.3055G>A | NP_001341824.1:p.Gly1019Arg | |
| NM_001354896.2:c.3109G>A | NP_001341825.1:p.Gly1037Arg | |
| NM_001354897.2:c.3085G>A | NP_001341826.1:p.Gly1029Arg | |
| NM_001354898.2:c.2980G>A | NP_001341827.1:p.Gly994Arg | |
| NM_001354899.2:c.2971G>A | NP_001341828.1:p.Gly991Arg | |
| NM_001354900.2:c.2932G>A | NP_001341829.1:p.Gly978Arg | |
| NM_001354901.2:c.2878G>A | NP_001341830.1:p.Gly960Arg | |
| NM_001354902.2:c.2782G>A | NP_001341831.1:p.Gly928Arg | |
| NM_001354903.2:c.2752G>A | NP_001341832.1:p.Gly918Arg | |
| NM_001354904.2:c.2677G>A | NP_001341833.1:p.Gly893Arg | |
| NM_001354905.2:c.2575G>A | NP_001341834.1:p.Gly859Arg | |
| NM_001354906.2:c.2206G>A | NP_001341835.1:p.Gly736Arg |