Linked Data
ClinVar Variation Id:
543210
dbSNP Id:
rs373694973
ExAC:
7:30668260 T / C
gnomAD v2:
7-30668260-T-C
gnomAD v3:
7-30628644-T-C
gnomAD v4:
7-30628644-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30628644T>C , CM000669.2:g.30628644T>C | GRCh38 |
| NC_000007.13:g.30668260T>C , CM000669.1:g.30668260T>C | GRCh37 |
| NC_000007.12:g.30634785T>C | NCBI36 |
| NG_007942.1:g.39080T>C , LRG_243:g.39080T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1784T>C MANE Select | ENSP00000373918.3:p.Val595Ala | |
| ENST00000444666.6:c.*205T>C | ENSP00000415447.2:n.*205T>C | |
| ENST00000465748.2:n.1265T>C | ||
| ENST00000470392.2:n.1874T>C | ||
| ENST00000485784.2:n.1863T>C | ||
| ENST00000496643.2:n.101T>C | ||
| ENST00000674616.1:c.*1498T>C | ENSP00000502408.1:n.*1498T>C | |
| ENST00000674643.1:c.*884T>C | ENSP00000501636.1:n.*884T>C | |
| ENST00000674737.1:c.*1122T>C | ENSP00000502464.1:n.*1122T>C | |
| ENST00000674807.1:c.*57T>C | ENSP00000502814.1:n.*57T>C | |
| ENST00000674815.1:c.1415T>C | ENSP00000502799.1:p.Val472Ala | |
| ENST00000674851.1:c.1415T>C | ENSP00000502451.1:p.Val472Ala | |
| ENST00000674969.1:n.3657T>C | ||
| ENST00000675051.1:c.1583T>C | ENSP00000502296.1:p.Val528Ala | |
| ENST00000675529.1:c.*1654T>C | ENSP00000501655.1:n.*1654T>C | |
| ENST00000675587.1:n.2616T>C | ||
| ENST00000675651.1:c.1784T>C | ENSP00000502513.1:p.Val595Ala | |
| ENST00000675693.1:c.1616T>C | ENSP00000502174.1:p.Val539Ala | |
| ENST00000675810.1:c.1682T>C | ENSP00000502743.1:p.Val561Ala | |
| ENST00000675859.1:c.*57T>C | ENSP00000502033.1:n.*57T>C | |
| ENST00000675863.1:n.1792T>C | ||
| ENST00000675886.1:n.7824T>C | ||
| ENST00000676088.1:c.*1726T>C | ENSP00000501884.1:n.*1726T>C | |
| ENST00000676140.1:c.*729T>C | ENSP00000502571.1:n.*729T>C | |
| ENST00000676164.1:c.*1235T>C | ENSP00000501986.1:n.*1235T>C | |
| ENST00000676210.1:c.*1073T>C | ENSP00000502373.1:n.*1073T>C | |
| ENST00000676259.1:c.*1216T>C | ENSP00000501980.1:n.*1216T>C | |
| ENST00000676403.1:c.1784T>C | ENSP00000502681.1:p.Val595Ala | |
| ENST00000389266.7:c.1784T>C | ENSP00000373918.3:p.Val595Ala | |
| ENST00000444666.5:c.439T>C | ENSP00000415447.1:n.439T>C | |
| ENST00000465748.1:n.155T>C | ||
| NM_001316772.1:c.1622T>C | NP_001303701.1:p.Val541Ala | |
| NM_002047.2:c.1784T>C , LRG_243t1:c.1784T>C | NP_002038.2:p.Val595Ala | |
| NM_002047.3:c.1784T>C | NP_002038.2:p.Val595Ala | |
| XM_006715686.1:c.1415T>C | XP_006715749.1:p.Val472Ala | |
| XM_006715686.2:c.1415T>C | XP_006715749.1:p.Val472Ala | |
| NM_002047.4:c.1784T>C MANE Select | NP_002038.2:p.Val595Ala |