Linked Data
dbSNP Id:
rs1580691326
gnomAD v4:
5-112843817-A-T
MyVariant Identifiers:
chr5:g.112179514A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843817A>T , CM000667.2:g.112843817A>T | GRCh38 |
| NC_000005.9:g.112179514A>T , CM000667.1:g.112179514A>T | GRCh37 |
| NC_000005.8:g.112207413A>T | NCBI36 |
| NG_008481.4:g.156297A>T , LRG_130:g.156297A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8277A>T | ENSP00000473355.2:p.Gly2759= | |
| ENST00000505350.2:c.*8229A>T | ENSP00000481752.1:n.*8229A>T | |
| ENST00000507379.6:c.8169A>T | ENSP00000423224.2:p.Gly2723= | |
| ENST00000509732.6:c.8223A>T | ENSP00000426541.2:p.Gly2741= | |
| ENST00000512211.7:c.8223A>T | ENSP00000423828.3:p.Gly2741= | |
| ENST00000257430.9:c.8223A>T MANE Select | ENSP00000257430.4:p.Gly2741= | |
| ENST00000257430.8:c.8223A>T | ENSP00000257430.4:p.Gly2741= | |
| ENST00000508376.6:c.8223A>T | ENSP00000427089.2:p.Gly2741= | |
| ENST00000520401.1:c.231-12832A>T | ||
| NM_000038.5:c.8223A>T | NP_000029.2:p.Gly2741= | |
| NM_001127510.2:c.8223A>T | NP_001120982.1:p.Gly2741= | |
| NM_001127511.2:c.8169A>T | NP_001120983.2:p.Gly2723= | |
| NM_001354895.1:c.8223A>T | NP_001341824.1:p.Gly2741= | |
| NM_001354896.1:c.8277A>T | NP_001341825.1:p.Gly2759= | |
| NM_001354897.1:c.8253A>T | NP_001341826.1:p.Gly2751= | |
| NM_001354898.1:c.8148A>T | NP_001341827.1:p.Gly2716= | |
| NM_001354899.1:c.8139A>T | NP_001341828.1:p.Gly2713= | |
| NM_001354900.1:c.8100A>T | NP_001341829.1:p.Gly2700= | |
| NM_001354901.1:c.8046A>T | NP_001341830.1:p.Gly2682= | |
| NM_001354902.1:c.7950A>T | NP_001341831.1:p.Gly2650= | |
| NM_001354903.1:c.7920A>T | NP_001341832.1:p.Gly2640= | |
| NM_001354904.1:c.7845A>T | NP_001341833.1:p.Gly2615= | |
| NM_001354905.1:c.7743A>T | NP_001341834.1:p.Gly2581= | |
| NM_001354906.1:c.7374A>T | NP_001341835.1:p.Gly2458= | |
| NM_000038.6:c.8223A>T MANE Select | NP_000029.2:p.Gly2741= | |
| NM_001127510.3:c.8223A>T | NP_001120982.1:p.Gly2741= | |
| NM_001127511.3:c.8169A>T | NP_001120983.2:p.Gly2723= | |
| NM_001354895.2:c.8223A>T | NP_001341824.1:p.Gly2741= | |
| NM_001354896.2:c.8277A>T | NP_001341825.1:p.Gly2759= | |
| NM_001354897.2:c.8253A>T | NP_001341826.1:p.Gly2751= | |
| NM_001354898.2:c.8148A>T | NP_001341827.1:p.Gly2716= | |
| NM_001354899.2:c.8139A>T | NP_001341828.1:p.Gly2713= | |
| NM_001354900.2:c.8100A>T | NP_001341829.1:p.Gly2700= | |
| NM_001354901.2:c.8046A>T | NP_001341830.1:p.Gly2682= | |
| NM_001354902.2:c.7950A>T | NP_001341831.1:p.Gly2650= | |
| NM_001354903.2:c.7920A>T | NP_001341832.1:p.Gly2640= | |
| NM_001354904.2:c.7845A>T | NP_001341833.1:p.Gly2615= | |
| NM_001354905.2:c.7743A>T | NP_001341834.1:p.Gly2581= | |
| NM_001354906.2:c.7374A>T | NP_001341835.1:p.Gly2458= |