Linked Data
ClinVar Variation Id:
438870
dbSNP Id:
rs1554083247
gnomAD v3:
5-112835148-T-C
gnomAD v4:
5-112835148-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835148T>C , CM000667.2:g.112835148T>C | GRCh38 |
| NC_000005.9:g.112170845T>C , CM000667.1:g.112170845T>C | GRCh37 |
| NC_000005.8:g.112198744T>C | NCBI36 |
| NG_008481.4:g.147628T>C , LRG_130:g.147628T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1606T>C | ENSP00000484935.2:n.1606T>C | |
| ENST00000504915.3:c.1995T>C | ENSP00000473355.2:p.Ala665= | |
| ENST00000505350.2:c.*1947T>C | ENSP00000481752.1:n.*1947T>C | |
| ENST00000507379.6:c.1887T>C | ENSP00000423224.2:p.Ala629= | |
| ENST00000509732.6:c.1941T>C | ENSP00000426541.2:p.Ala647= | |
| ENST00000512211.7:c.1941T>C | ENSP00000423828.3:p.Ala647= | |
| ENST00000257430.9:c.1941T>C MANE Select | ENSP00000257430.4:p.Ala647= | |
| ENST00000257430.8:c.1941T>C | ENSP00000257430.4:p.Ala647= | |
| ENST00000502371.2:c.294T>C | ||
| ENST00000504915.2:c.630T>C | ENSP00000473355.1:p.Ala210= | |
| ENST00000507379.5:c.1887T>C | ENSP00000423224.1:p.Ala629= | |
| ENST00000508376.6:c.1941T>C | ENSP00000427089.2:p.Ala647= | |
| ENST00000508624.5:c.*1263T>C | ENSP00000424265.1:n.*1263T>C | |
| ENST00000512211.6:c.1941T>C | ENSP00000423828.2:p.Ala647= | |
| ENST00000520401.1:c.230+6176T>C | ||
| NM_000038.5:c.1941T>C | NP_000029.2:p.Ala647= | |
| NM_001127510.2:c.1941T>C | NP_001120982.1:p.Ala647= | |
| NM_001127511.2:c.1887T>C | NP_001120983.2:p.Ala629= | |
| NM_001354895.1:c.1941T>C | NP_001341824.1:p.Ala647= | |
| NM_001354896.1:c.1995T>C | NP_001341825.1:p.Ala665= | |
| NM_001354897.1:c.1971T>C | NP_001341826.1:p.Ala657= | |
| NM_001354898.1:c.1866T>C | NP_001341827.1:p.Ala622= | |
| NM_001354899.1:c.1857T>C | NP_001341828.1:p.Ala619= | |
| NM_001354900.1:c.1818T>C | NP_001341829.1:p.Ala606= | |
| NM_001354901.1:c.1764T>C | NP_001341830.1:p.Ala588= | |
| NM_001354902.1:c.1668T>C | NP_001341831.1:p.Ala556= | |
| NM_001354903.1:c.1638T>C | NP_001341832.1:p.Ala546= | |
| NM_001354904.1:c.1563T>C | NP_001341833.1:p.Ala521= | |
| NM_001354905.1:c.1461T>C | NP_001341834.1:p.Ala487= | |
| NM_001354906.1:c.1092T>C | NP_001341835.1:p.Ala364= | |
| NM_000038.6:c.1941T>C MANE Select | NP_000029.2:p.Ala647= | |
| NM_001127510.3:c.1941T>C | NP_001120982.1:p.Ala647= | |
| NM_001127511.3:c.1887T>C | NP_001120983.2:p.Ala629= | |
| NM_001354895.2:c.1941T>C | NP_001341824.1:p.Ala647= | |
| NM_001354896.2:c.1995T>C | NP_001341825.1:p.Ala665= | |
| NM_001354897.2:c.1971T>C | NP_001341826.1:p.Ala657= | |
| NM_001354898.2:c.1866T>C | NP_001341827.1:p.Ala622= | |
| NM_001354899.2:c.1857T>C | NP_001341828.1:p.Ala619= | |
| NM_001354900.2:c.1818T>C | NP_001341829.1:p.Ala606= | |
| NM_001354901.2:c.1764T>C | NP_001341830.1:p.Ala588= | |
| NM_001354902.2:c.1668T>C | NP_001341831.1:p.Ala556= | |
| NM_001354903.2:c.1638T>C | NP_001341832.1:p.Ala546= | |
| NM_001354904.2:c.1563T>C | NP_001341833.1:p.Ala521= | |
| NM_001354905.2:c.1461T>C | NP_001341834.1:p.Ala487= | |
| NM_001354906.2:c.1092T>C | NP_001341835.1:p.Ala364= |