Linked Data
ClinVar Variation Id:
630202
dbSNP Id:
rs754977173
ExAC:
5:112179064 T / C
gnomAD v2:
5-112179064-T-C
gnomAD v4:
5-112843367-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843367T>C , CM000667.2:g.112843367T>C | GRCh38 |
| NC_000005.9:g.112179064T>C , CM000667.1:g.112179064T>C | GRCh37 |
| NC_000005.8:g.112206963T>C | NCBI36 |
| NG_008481.4:g.155847T>C , LRG_130:g.155847T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7827T>C | ENSP00000473355.2:p.His2609= | |
| ENST00000505350.2:c.*7779T>C | ENSP00000481752.1:n.*7779T>C | |
| ENST00000507379.6:c.7719T>C | ENSP00000423224.2:p.His2573= | |
| ENST00000509732.6:c.7773T>C | ENSP00000426541.2:p.His2591= | |
| ENST00000512211.7:c.7773T>C | ENSP00000423828.3:p.His2591= | |
| ENST00000257430.9:c.7773T>C MANE Select | ENSP00000257430.4:p.His2591= | |
| ENST00000257430.8:c.7773T>C | ENSP00000257430.4:p.His2591= | |
| ENST00000508376.6:c.7773T>C | ENSP00000427089.2:p.His2591= | |
| ENST00000520401.1:c.231-13282T>C | ||
| NM_000038.5:c.7773T>C | NP_000029.2:p.His2591= | |
| NM_001127510.2:c.7773T>C | NP_001120982.1:p.His2591= | |
| NM_001127511.2:c.7719T>C | NP_001120983.2:p.His2573= | |
| NM_001354895.1:c.7773T>C | NP_001341824.1:p.His2591= | |
| NM_001354896.1:c.7827T>C | NP_001341825.1:p.His2609= | |
| NM_001354897.1:c.7803T>C | NP_001341826.1:p.His2601= | |
| NM_001354898.1:c.7698T>C | NP_001341827.1:p.His2566= | |
| NM_001354899.1:c.7689T>C | NP_001341828.1:p.His2563= | |
| NM_001354900.1:c.7650T>C | NP_001341829.1:p.His2550= | |
| NM_001354901.1:c.7596T>C | NP_001341830.1:p.His2532= | |
| NM_001354902.1:c.7500T>C | NP_001341831.1:p.His2500= | |
| NM_001354903.1:c.7470T>C | NP_001341832.1:p.His2490= | |
| NM_001354904.1:c.7395T>C | NP_001341833.1:p.His2465= | |
| NM_001354905.1:c.7293T>C | NP_001341834.1:p.His2431= | |
| NM_001354906.1:c.6924T>C | NP_001341835.1:p.His2308= | |
| NM_000038.6:c.7773T>C MANE Select | NP_000029.2:p.His2591= | |
| NM_001127510.3:c.7773T>C | NP_001120982.1:p.His2591= | |
| NM_001127511.3:c.7719T>C | NP_001120983.2:p.His2573= | |
| NM_001354895.2:c.7773T>C | NP_001341824.1:p.His2591= | |
| NM_001354896.2:c.7827T>C | NP_001341825.1:p.His2609= | |
| NM_001354897.2:c.7803T>C | NP_001341826.1:p.His2601= | |
| NM_001354898.2:c.7698T>C | NP_001341827.1:p.His2566= | |
| NM_001354899.2:c.7689T>C | NP_001341828.1:p.His2563= | |
| NM_001354900.2:c.7650T>C | NP_001341829.1:p.His2550= | |
| NM_001354901.2:c.7596T>C | NP_001341830.1:p.His2532= | |
| NM_001354902.2:c.7500T>C | NP_001341831.1:p.His2500= | |
| NM_001354903.2:c.7470T>C | NP_001341832.1:p.His2490= | |
| NM_001354904.2:c.7395T>C | NP_001341833.1:p.His2465= | |
| NM_001354905.2:c.7293T>C | NP_001341834.1:p.His2431= | |
| NM_001354906.2:c.6924T>C | NP_001341835.1:p.His2308= |