Linked Data
ClinVar Variation Id:
137444
ClinVar RCV Id:
RCV000125202
RCV000308833
RCV000343793
RCV000394879
RCV000576836
RCV000676704
RCV001172990
RCV001095192
dbSNP Id:
rs2529438
ExAC:
7:30634630 G / C
gnomAD v2:
7-30634630-G-C
gnomAD v3:
7-30595014-G-C
gnomAD v4:
7-30595014-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30595014G>C , CM000669.2:g.30595014G>C | GRCh38 |
| NC_000007.13:g.30634630G>C , CM000669.1:g.30634630G>C | GRCh37 |
| NC_000007.12:g.30601155G>C | NCBI36 |
| NG_007942.1:g.5450G>C , LRG_243:g.5450G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.93G>C MANE Select | ENSP00000373918.3:p.Leu31= | |
| ENST00000444666.6:c.93G>C | ENSP00000415447.2:p.Leu31= | |
| ENST00000454308.6:c.93G>C | ENSP00000392677.2:p.Leu31= | |
| ENST00000470392.2:n.183G>C | ||
| ENST00000478124.6:n.156G>C | ||
| ENST00000485784.2:n.172G>C | ||
| ENST00000674616.1:c.93G>C | ENSP00000502408.1:p.Leu31= | |
| ENST00000674643.1:c.93G>C | ENSP00000501636.1:p.Leu31= | |
| ENST00000674737.1:c.93G>C | ENSP00000502464.1:p.Leu31= | |
| ENST00000674807.1:c.93G>C | ENSP00000502814.1:p.Leu31= | |
| ENST00000674815.1:c.-148+62G>C | ENSP00000502799.1:n.-148+62G>C | |
| ENST00000674851.1:c.-184+62G>C | ENSP00000502451.1:n.-184+62G>C | |
| ENST00000674969.1:n.133G>C | ||
| ENST00000675051.1:c.22-3782G>C | ENSP00000502296.1:n.22-3782G>C | |
| ENST00000675529.1:c.93G>C | ENSP00000501655.1:p.Leu31= | |
| ENST00000675587.1:n.109G>C | ||
| ENST00000675651.1:c.93G>C | ENSP00000502513.1:p.Leu31= | |
| ENST00000675693.1:c.18+75G>C | ENSP00000502174.1:n.18+75G>C | |
| ENST00000675810.1:c.93G>C | ENSP00000502743.1:p.Leu31= | |
| ENST00000675859.1:c.93G>C | ENSP00000502033.1:p.Leu31= | |
| ENST00000675863.1:n.101G>C | ||
| ENST00000675886.1:n.121G>C | ||
| ENST00000676088.1:c.93G>C | ENSP00000501884.1:p.Leu31= | |
| ENST00000676140.1:c.93G>C | ENSP00000502571.1:p.Leu31= | |
| ENST00000676164.1:c.93G>C | ENSP00000501986.1:p.Leu31= | |
| ENST00000676210.1:c.93G>C | ENSP00000502373.1:p.Leu31= | |
| ENST00000676259.1:c.93G>C | ENSP00000501980.1:p.Leu31= | |
| ENST00000676403.1:c.93G>C | ENSP00000502681.1:p.Leu31= | |
| ENST00000389266.7:c.93G>C | ENSP00000373918.3:p.Leu31= | |
| ENST00000454308.5:c.93G>C | ENSP00000392677.1:p.Leu31= | |
| ENST00000478124.5:n.131G>C | ||
| ENST00000627489.1:c.93G>C | ENSP00000485931.1:p.Leu31= | |
| NM_001316772.1:c.-70G>C | NP_001303701.1:n.-70G>C | |
| NM_002047.2:c.93G>C , LRG_243t1:c.93G>C | NP_002038.2:p.Leu31= | |
| NM_002047.3:c.93G>C | NP_002038.2:p.Leu31= | |
| XM_006715686.2:c.-387G>C | XP_006715749.1:n.-387G>C | |
| NM_002047.4:c.93G>C MANE Select | NP_002038.2:p.Leu31= |