Linked Data
ClinVar Variation Id:
2162226
dbSNP Id:
rs1554079205
MyVariant Identifiers:
chr5:g.112151260T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112815563T>A , CM000667.2:g.112815563T>A | GRCh38 |
| NC_000005.9:g.112151260T>A , CM000667.1:g.112151260T>A | GRCh37 |
| NC_000005.8:g.112179159T>A | NCBI36 |
| NG_008481.4:g.128043T>A , LRG_130:g.128043T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.903T>A | ENSP00000484935.2:p.Pro301= | |
| ENST00000504915.3:c.903T>A | ENSP00000473355.2:p.Pro301= | |
| ENST00000505084.2:n.959T>A | ||
| ENST00000505350.2:c.*909T>A | ENSP00000481752.1:n.*909T>A | |
| ENST00000507379.6:c.849T>A | ENSP00000423224.2:p.Pro283= | |
| ENST00000509732.6:c.903T>A | ENSP00000426541.2:p.Pro301= | |
| ENST00000512211.7:c.903T>A | ENSP00000423828.3:p.Pro301= | |
| ENST00000257430.9:c.903T>A MANE Select | ENSP00000257430.4:p.Pro301= | |
| ENST00000257430.8:c.903T>A | ENSP00000257430.4:p.Pro301= | |
| ENST00000507379.5:c.849T>A | ENSP00000423224.1:p.Pro283= | |
| ENST00000508376.6:c.903T>A | ENSP00000427089.2:p.Pro301= | |
| ENST00000508624.5:c.*225T>A | ENSP00000424265.1:n.*225T>A | |
| ENST00000512211.6:c.903T>A | ENSP00000423828.2:p.Pro301= | |
| NM_000038.5:c.903T>A | NP_000029.2:p.Pro301= | |
| NM_001127510.2:c.903T>A | NP_001120982.1:p.Pro301= | |
| NM_001127511.2:c.849T>A | NP_001120983.2:p.Pro283= | |
| NM_001354895.1:c.903T>A | NP_001341824.1:p.Pro301= | |
| NM_001354896.1:c.903T>A | NP_001341825.1:p.Pro301= | |
| NM_001354897.1:c.933T>A | NP_001341826.1:p.Pro311= | |
| NM_001354898.1:c.828T>A | NP_001341827.1:p.Pro276= | |
| NM_001354899.1:c.819T>A | NP_001341828.1:p.Pro273= | |
| NM_001354900.1:c.726T>A | NP_001341829.1:p.Pro242= | |
| NM_001354901.1:c.726T>A | NP_001341830.1:p.Pro242= | |
| NM_001354902.1:c.933T>A | NP_001341831.1:p.Pro311= | |
| NM_001354903.1:c.903T>A | NP_001341832.1:p.Pro301= | |
| NM_001354904.1:c.828T>A | NP_001341833.1:p.Pro276= | |
| NM_001354905.1:c.726T>A | NP_001341834.1:p.Pro242= | |
| NM_001354906.1:c.54T>A | NP_001341835.1:p.Pro18= | |
| NM_000038.6:c.903T>A MANE Select | NP_000029.2:p.Pro301= | |
| NM_001127510.3:c.903T>A | NP_001120982.1:p.Pro301= | |
| NM_001127511.3:c.849T>A | NP_001120983.2:p.Pro283= | |
| NM_001354895.2:c.903T>A | NP_001341824.1:p.Pro301= | |
| NM_001354896.2:c.903T>A | NP_001341825.1:p.Pro301= | |
| NM_001354897.2:c.933T>A | NP_001341826.1:p.Pro311= | |
| NM_001354898.2:c.828T>A | NP_001341827.1:p.Pro276= | |
| NM_001354899.2:c.819T>A | NP_001341828.1:p.Pro273= | |
| NM_001354900.2:c.726T>A | NP_001341829.1:p.Pro242= | |
| NM_001354901.2:c.726T>A | NP_001341830.1:p.Pro242= | |
| NM_001354902.2:c.933T>A | NP_001341831.1:p.Pro311= | |
| NM_001354903.2:c.903T>A | NP_001341832.1:p.Pro301= | |
| NM_001354904.2:c.828T>A | NP_001341833.1:p.Pro276= | |
| NM_001354905.2:c.726T>A | NP_001341834.1:p.Pro242= | |
| NM_001354906.2:c.54T>A | NP_001341835.1:p.Pro18= |