Linked Data
ClinVar Variation Id:
163450
dbSNP Id:
rs2430347
ExAC:
14:92347680 A / G
gnomAD v2:
14-92347680-A-G
gnomAD v3:
14-91881336-A-G
gnomAD v4:
14-91881336-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91881336A>G , CM000676.2:g.91881336A>G | GRCh38 |
| NC_000014.8:g.92347680A>G , CM000676.1:g.92347680A>G | GRCh37 |
| NC_000014.7:g.91417433A>G | NCBI36 |
| NG_008254.1:g.71367T>C , LRG_364:g.71367T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557088.6:c.*911T>C | ENSP00000451002.1:n.*911T>C | |
| ENST00000557570.2:c.777T>C | ENSP00000450787.2:p.Ile259= | |
| ENST00000706675.1:n.760T>C | ||
| ENST00000706676.1:c.1119T>C | ENSP00000516492.1:p.Ile373= | |
| ENST00000706677.1:c.945T>C | ENSP00000516493.1:p.Ile315= | |
| ENST00000706678.1:n.865T>C | ||
| ENST00000706679.1:c.777T>C | ENSP00000516494.1:p.Ile259= | |
| ENST00000706680.1:c.*788T>C | ENSP00000516495.1:n.*788T>C | |
| ENST00000706681.1:c.*684T>C | ENSP00000516496.1:n.*684T>C | |
| ENST00000342058.9:c.945T>C MANE Select | ENSP00000345008.4:p.Ile315= | |
| ENST00000267620.14:c.1068T>C | ENSP00000267620.10:p.Ile356= | |
| ENST00000342058.8:c.945T>C | ENSP00000345008.4:p.Ile315= | |
| ENST00000556154.5:c.960T>C | ENSP00000451982.1:p.Ile320= | |
| NM_006329.3:c.945T>C , LRG_364t1:c.945T>C | NP_006320.2:p.Ile315= | |
| XM_005267267.3:c.996T>C | XP_005267324.1:p.Ile332= | |
| XM_011536356.1:c.996T>C | XP_011534658.1:p.Ile332= | |
| XM_011536357.1:c.945T>C | XP_011534659.1:p.Ile315= | |
| XM_011536358.1:c.777T>C | XP_011534660.1:p.Ile259= | |
| XM_011536357.2:c.945T>C | XP_011534659.1:p.Ile315= | |
| XM_011536358.2:c.777T>C | XP_011534660.1:p.Ile259= | |
| XM_017020929.2:c.777T>C | XP_016876418.1:p.Ile259= | |
| NM_001384158.1:c.1068T>C | NP_001371087.1:p.Ile356= | |
| NM_001384159.1:c.996T>C | NP_001371088.1:p.Ile332= | |
| NM_001384160.1:c.945T>C | NP_001371089.1:p.Ile315= | |
| NM_001384161.1:c.777T>C | NP_001371090.1:p.Ile259= | |
| NM_001384162.1:c.777T>C | NP_001371091.1:p.Ile259= | |
| NM_006329.4:c.945T>C MANE Select | NP_006320.2:p.Ile315= |