Linked Data
dbSNP Id:
rs370571333
ExAC:
11:14900675 C / T
gnomAD v2:
11-14900675-C-T
gnomAD v3:
11-14879129-C-T
gnomAD v4:
11-14879129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14879129C>T , CM000673.2:g.14879129C>T | GRCh38 |
| NC_000011.9:g.14900675C>T , CM000673.1:g.14900675C>T | GRCh37 |
| NC_000011.8:g.14857251C>T | NCBI36 |
| NG_007936.1:g.18077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334636.10:c.1315G>A MANE Select | ENSP00000334592.5:p.Val439Ile | |
| ENST00000334636.9:c.1315G>A | ENSP00000334592.5:p.Val439Ile | |
| ENST00000525015.1:c.145G>A | ||
| ENST00000530609.5:c.*911G>A | ENSP00000466060.1:n.*911G>A | |
| ENST00000532378.5:c.616G>A | ENSP00000435484.1:p.Val206Ile | |
| ENST00000532805.1:c.*423G>A | ENSP00000465097.1:n.*423G>A | |
| ENST00000534686.5:c.*675G>A | ENSP00000432087.2:n.*675G>A | |
| NM_024514.4:c.1315G>A | NP_078790.2:p.Val439Ile | |
| XM_005252788.1:c.1171G>A | XP_005252845.1:p.Val391Ile | |
| XM_005252789.2:c.1153G>A | XP_005252846.1:p.Val385Ile | |
| XM_005252791.3:c.970G>A | XP_005252848.1:p.Val324Ile | |
| XM_006718142.2:c.1270G>A | XP_006718205.1:p.Val424Ile | |
| XM_011519894.1:c.970G>A | XP_011518196.1:p.Val324Ile | |
| XM_011519895.1:c.970G>A | XP_011518197.1:p.Val324Ile | |
| XM_011519896.1:c.970G>A | XP_011518198.1:p.Val324Ile | |
| XM_011519897.1:c.970G>A | XP_011518199.1:p.Val324Ile | |
| XM_011519898.1:c.970G>A | XP_011518200.1:p.Val324Ile | |
| XR_242777.2:n.1132G>A | ||
| XM_005252788.2:c.1171G>A | XP_005252845.1:p.Val391Ile | |
| XM_005252789.3:c.1153G>A | XP_005252846.1:p.Val385Ile | |
| XM_011519895.2:c.970G>A | XP_011518197.1:p.Val324Ile | |
| XM_011519898.3:c.970G>A | XP_011518200.1:p.Val324Ile | |
| XM_017017190.2:c.1150G>A | XP_016872679.1:p.Val384Ile | |
| XM_017017191.2:c.970G>A | XP_016872680.1:p.Val324Ile | |
| XM_017017192.2:c.970G>A | XP_016872681.1:p.Val324Ile | |
| XM_017017193.2:c.970G>A | XP_016872682.1:p.Val324Ile | |
| XM_017017194.2:c.970G>A | XP_016872683.1:p.Val324Ile | |
| XM_024448345.1:c.1150G>A | XP_024304113.1:p.Val384Ile | |
| XM_024448346.1:c.970G>A | XP_024304114.1:p.Val324Ile | |
| XM_024448347.1:c.970G>A | XP_024304115.1:p.Val324Ile | |
| XM_024448348.1:c.970G>A | XP_024304116.1:p.Val324Ile | |
| XR_002957123.1:n.1095G>A | ||
| XR_002957124.1:n.1361G>A | ||
| XR_242777.3:n.1132G>A | ||
| NM_001377214.1:c.970G>A | NP_001364143.1:p.Val324Ile | |
| NM_001377215.1:c.970G>A | NP_001364144.1:p.Val324Ile | |
| NM_001377216.1:c.970G>A | NP_001364145.1:p.Val324Ile | |
| NM_001377217.1:c.1153G>A | NP_001364146.1:p.Val385Ile | |
| NM_001377227.1:c.970G>A | NP_001364156.1:p.Val324Ile | |
| NM_024514.5:c.1315G>A MANE Select | NP_078790.2:p.Val439Ile | |
| NM_001400558.1:c.970G>A | NP_001387487.1:p.Val324Ile | |
| NM_001400559.1:c.970G>A | NP_001387488.1:p.Val324Ile | |
| NM_001400560.1:c.970G>A | NP_001387489.1:p.Val324Ile | |
| NM_001400561.1:c.970G>A | NP_001387490.1:p.Val324Ile | |
| NM_001400562.1:c.616G>A | NP_001387491.1:p.Val206Ile | |
| NM_001400563.1:c.616G>A | NP_001387492.1:p.Val206Ile | |
| NM_001400564.1:c.616G>A | NP_001387493.1:p.Val206Ile | |
| NM_001400565.1:c.616G>A | NP_001387494.1:p.Val206Ile | |
| NM_001400566.1:c.337G>A | NP_001387495.1:p.Val113Ile | |
| NM_001400567.1:c.1171G>A | NP_001387496.1:p.Val391Ile | |
| NM_001400568.1:c.1270G>A | NP_001387497.1:p.Val424Ile | |
| NR_174512.1:n.1182G>A | ||
| NR_174513.1:n.1031G>A | ||
| NR_174514.1:n.1406G>A | ||
| NR_174515.1:n.1815G>A | ||
| NR_174516.1:n.993G>A | ||
| NR_174517.1:n.529G>A | ||
| NR_174518.1:n.1626G>A | ||
| NR_174519.1:n.1373G>A | ||
| NR_174520.1:n.1164G>A | ||
| NR_174521.1:n.1664G>A | ||
| NR_174522.1:n.1162G>A | ||
| NR_174523.1:n.1573G>A |