Linked Data
ClinVar Variation Id:
137442
dbSNP Id:
rs14270
ExAC:
7:30671087 T / C
gnomAD v2:
7-30671087-T-C
gnomAD v3:
7-30631471-T-C
gnomAD v4:
7-30631471-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30631471T>C , CM000669.2:g.30631471T>C | GRCh38 |
| NC_000007.13:g.30671087T>C , CM000669.1:g.30671087T>C | GRCh37 |
| NC_000007.12:g.30637612T>C | NCBI36 |
| NG_007942.1:g.41907T>C , LRG_243:g.41907T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389266.8:c.1833T>C MANE Select | ENSP00000373918.3:p.Val611= | |
| ENST00000444666.6:c.*254T>C | ENSP00000415447.2:n.*254T>C | |
| ENST00000465748.2:n.1314T>C | ||
| ENST00000470392.2:n.4701T>C | ||
| ENST00000485784.2:n.4690T>C | ||
| ENST00000496643.2:n.2928T>C | ||
| ENST00000674616.1:c.*1547T>C | ENSP00000502408.1:n.*1547T>C | |
| ENST00000674643.1:c.*933T>C | ENSP00000501636.1:n.*933T>C | |
| ENST00000674737.1:c.*1171T>C | ENSP00000502464.1:n.*1171T>C | |
| ENST00000674807.1:c.*106T>C | ENSP00000502814.1:n.*106T>C | |
| ENST00000674815.1:c.1464T>C | ENSP00000502799.1:p.Val488= | |
| ENST00000674851.1:c.1464T>C | ENSP00000502451.1:p.Val488= | |
| ENST00000674969.1:n.3706T>C | ||
| ENST00000675051.1:c.1632T>C | ENSP00000502296.1:p.Val544= | |
| ENST00000675529.1:c.*1703T>C | ENSP00000501655.1:n.*1703T>C | |
| ENST00000675587.1:n.2665T>C | ||
| ENST00000675651.1:c.1833T>C | ENSP00000502513.1:p.Val611= | |
| ENST00000675693.1:c.1665T>C | ENSP00000502174.1:p.Val555= | |
| ENST00000675810.1:c.1731T>C | ENSP00000502743.1:p.Val577= | |
| ENST00000675859.1:c.*83-776T>C | ENSP00000502033.1:n.*83-776T>C | |
| ENST00000675863.1:n.1841T>C | ||
| ENST00000675886.1:n.7873T>C | ||
| ENST00000676088.1:c.*1775T>C | ENSP00000501884.1:n.*1775T>C | |
| ENST00000676140.1:c.*778T>C | ENSP00000502571.1:n.*778T>C | |
| ENST00000676164.1:c.*1284T>C | ENSP00000501986.1:n.*1284T>C | |
| ENST00000676210.1:c.*1122T>C | ENSP00000502373.1:n.*1122T>C | |
| ENST00000676259.1:c.*1265T>C | ENSP00000501980.1:n.*1265T>C | |
| ENST00000676403.1:c.1810-776T>C | ENSP00000502681.1:n.1810-776T>C | |
| ENST00000389266.7:c.1833T>C | ENSP00000373918.3:p.Val611= | |
| ENST00000444666.5:c.488T>C | ENSP00000415447.1:n.488T>C | |
| ENST00000465748.1:n.204T>C | ||
| ENST00000485784.1:n.323T>C | ||
| NM_001316772.1:c.1671T>C | NP_001303701.1:p.Val557= | |
| NM_002047.2:c.1833T>C , LRG_243t1:c.1833T>C | NP_002038.2:p.Val611= | |
| NM_002047.3:c.1833T>C | NP_002038.2:p.Val611= | |
| XM_006715686.1:c.1464T>C | XP_006715749.1:p.Val488= | |
| XM_006715686.2:c.1464T>C | XP_006715749.1:p.Val488= | |
| NM_002047.4:c.1833T>C MANE Select | NP_002038.2:p.Val611= |