Linked Data
ClinVar Variation Id:
1761621
gnomAD v4:
5-112843601-T-G
MyVariant Identifiers:
chr5:g.112179298T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843601T>G , CM000667.2:g.112843601T>G | GRCh38 |
| NC_000005.9:g.112179298T>G , CM000667.1:g.112179298T>G | GRCh37 |
| NC_000005.8:g.112207197T>G | NCBI36 |
| NG_008481.4:g.156081T>G , LRG_130:g.156081T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8061T>G | ENSP00000473355.2:p.Pro2687= | |
| ENST00000505350.2:c.*8013T>G | ENSP00000481752.1:n.*8013T>G | |
| ENST00000507379.6:c.7953T>G | ENSP00000423224.2:p.Pro2651= | |
| ENST00000509732.6:c.8007T>G | ENSP00000426541.2:p.Pro2669= | |
| ENST00000512211.7:c.8007T>G | ENSP00000423828.3:p.Pro2669= | |
| ENST00000257430.9:c.8007T>G MANE Select | ENSP00000257430.4:p.Pro2669= | |
| ENST00000257430.8:c.8007T>G | ENSP00000257430.4:p.Pro2669= | |
| ENST00000508376.6:c.8007T>G | ENSP00000427089.2:p.Pro2669= | |
| ENST00000520401.1:c.231-13048T>G | ||
| NM_000038.5:c.8007T>G | NP_000029.2:p.Pro2669= | |
| NM_001127510.2:c.8007T>G | NP_001120982.1:p.Pro2669= | |
| NM_001127511.2:c.7953T>G | NP_001120983.2:p.Pro2651= | |
| NM_001354895.1:c.8007T>G | NP_001341824.1:p.Pro2669= | |
| NM_001354896.1:c.8061T>G | NP_001341825.1:p.Pro2687= | |
| NM_001354897.1:c.8037T>G | NP_001341826.1:p.Pro2679= | |
| NM_001354898.1:c.7932T>G | NP_001341827.1:p.Pro2644= | |
| NM_001354899.1:c.7923T>G | NP_001341828.1:p.Pro2641= | |
| NM_001354900.1:c.7884T>G | NP_001341829.1:p.Pro2628= | |
| NM_001354901.1:c.7830T>G | NP_001341830.1:p.Pro2610= | |
| NM_001354902.1:c.7734T>G | NP_001341831.1:p.Pro2578= | |
| NM_001354903.1:c.7704T>G | NP_001341832.1:p.Pro2568= | |
| NM_001354904.1:c.7629T>G | NP_001341833.1:p.Pro2543= | |
| NM_001354905.1:c.7527T>G | NP_001341834.1:p.Pro2509= | |
| NM_001354906.1:c.7158T>G | NP_001341835.1:p.Pro2386= | |
| NM_000038.6:c.8007T>G MANE Select | NP_000029.2:p.Pro2669= | |
| NM_001127510.3:c.8007T>G | NP_001120982.1:p.Pro2669= | |
| NM_001127511.3:c.7953T>G | NP_001120983.2:p.Pro2651= | |
| NM_001354895.2:c.8007T>G | NP_001341824.1:p.Pro2669= | |
| NM_001354896.2:c.8061T>G | NP_001341825.1:p.Pro2687= | |
| NM_001354897.2:c.8037T>G | NP_001341826.1:p.Pro2679= | |
| NM_001354898.2:c.7932T>G | NP_001341827.1:p.Pro2644= | |
| NM_001354899.2:c.7923T>G | NP_001341828.1:p.Pro2641= | |
| NM_001354900.2:c.7884T>G | NP_001341829.1:p.Pro2628= | |
| NM_001354901.2:c.7830T>G | NP_001341830.1:p.Pro2610= | |
| NM_001354902.2:c.7734T>G | NP_001341831.1:p.Pro2578= | |
| NM_001354903.2:c.7704T>G | NP_001341832.1:p.Pro2568= | |
| NM_001354904.2:c.7629T>G | NP_001341833.1:p.Pro2543= | |
| NM_001354905.2:c.7527T>G | NP_001341834.1:p.Pro2509= | |
| NM_001354906.2:c.7158T>G | NP_001341835.1:p.Pro2386= |