Linked Data
ClinVar Variation Id:
243108
dbSNP Id:
rs573020080
ExAC:
5:112174982 C / T
gnomAD v2:
5-112174982-C-T
gnomAD v3:
5-112839285-C-T
gnomAD v4:
5-112839285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839285C>T , CM000667.2:g.112839285C>T | GRCh38 |
| NC_000005.9:g.112174982C>T , CM000667.1:g.112174982C>T | GRCh37 |
| NC_000005.8:g.112202881C>T | NCBI36 |
| NG_008481.4:g.151765C>T , LRG_130:g.151765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3356C>T | ENSP00000484935.2:n.3356C>T | |
| ENST00000504915.3:c.3745C>T | ENSP00000473355.2:p.Leu1249Phe | |
| ENST00000505350.2:c.*3697C>T | ENSP00000481752.1:n.*3697C>T | |
| ENST00000507379.6:c.3637C>T | ENSP00000423224.2:p.Leu1213Phe | |
| ENST00000509732.6:c.3691C>T | ENSP00000426541.2:p.Leu1231Phe | |
| ENST00000512211.7:c.3691C>T | ENSP00000423828.3:p.Leu1231Phe | |
| ENST00000257430.9:c.3691C>T MANE Select | ENSP00000257430.4:p.Leu1231Phe | |
| ENST00000257430.8:c.3691C>T | ENSP00000257430.4:p.Leu1231Phe | |
| ENST00000502371.2:c.2044C>T | ||
| ENST00000508376.6:c.3691C>T | ENSP00000427089.2:p.Leu1231Phe | |
| ENST00000508624.5:c.*3013C>T | ENSP00000424265.1:n.*3013C>T | |
| ENST00000512211.6:c.3691C>T | ENSP00000423828.2:p.Leu1231Phe | |
| ENST00000520401.1:c.230+10313C>T | ||
| NM_000038.5:c.3691C>T | NP_000029.2:p.Leu1231Phe | |
| NM_001127510.2:c.3691C>T | NP_001120982.1:p.Leu1231Phe | |
| NM_001127511.2:c.3637C>T | NP_001120983.2:p.Leu1213Phe | |
| NM_001354895.1:c.3691C>T | NP_001341824.1:p.Leu1231Phe | |
| NM_001354896.1:c.3745C>T | NP_001341825.1:p.Leu1249Phe | |
| NM_001354897.1:c.3721C>T | NP_001341826.1:p.Leu1241Phe | |
| NM_001354898.1:c.3616C>T | NP_001341827.1:p.Leu1206Phe | |
| NM_001354899.1:c.3607C>T | NP_001341828.1:p.Leu1203Phe | |
| NM_001354900.1:c.3568C>T | NP_001341829.1:p.Leu1190Phe | |
| NM_001354901.1:c.3514C>T | NP_001341830.1:p.Leu1172Phe | |
| NM_001354902.1:c.3418C>T | NP_001341831.1:p.Leu1140Phe | |
| NM_001354903.1:c.3388C>T | NP_001341832.1:p.Leu1130Phe | |
| NM_001354904.1:c.3313C>T | NP_001341833.1:p.Leu1105Phe | |
| NM_001354905.1:c.3211C>T | NP_001341834.1:p.Leu1071Phe | |
| NM_001354906.1:c.2842C>T | NP_001341835.1:p.Leu948Phe | |
| NM_000038.6:c.3691C>T MANE Select | NP_000029.2:p.Leu1231Phe | |
| NM_001127510.3:c.3691C>T | NP_001120982.1:p.Leu1231Phe | |
| NM_001127511.3:c.3637C>T | NP_001120983.2:p.Leu1213Phe | |
| NM_001354895.2:c.3691C>T | NP_001341824.1:p.Leu1231Phe | |
| NM_001354896.2:c.3745C>T | NP_001341825.1:p.Leu1249Phe | |
| NM_001354897.2:c.3721C>T | NP_001341826.1:p.Leu1241Phe | |
| NM_001354898.2:c.3616C>T | NP_001341827.1:p.Leu1206Phe | |
| NM_001354899.2:c.3607C>T | NP_001341828.1:p.Leu1203Phe | |
| NM_001354900.2:c.3568C>T | NP_001341829.1:p.Leu1190Phe | |
| NM_001354901.2:c.3514C>T | NP_001341830.1:p.Leu1172Phe | |
| NM_001354902.2:c.3418C>T | NP_001341831.1:p.Leu1140Phe | |
| NM_001354903.2:c.3388C>T | NP_001341832.1:p.Leu1130Phe | |
| NM_001354904.2:c.3313C>T | NP_001341833.1:p.Leu1105Phe | |
| NM_001354905.2:c.3211C>T | NP_001341834.1:p.Leu1071Phe | |
| NM_001354906.2:c.2842C>T | NP_001341835.1:p.Leu948Phe |