UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1963289
ClinVar RCV Id:
RCV002711058
dbSNP Id:
rs553398855
ExAC:
14:92336688 G / A
gnomAD v2:
14-92336688-G-A
gnomAD v3:
14-91870344-G-A
gnomAD v4:
14-91870344-G-A
COSMIC:
COSM4683767
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91870344G>A , CM000676.2:g.91870344G>A | GRCh38 |
| NC_000014.8:g.92336688G>A , CM000676.1:g.92336688G>A | GRCh37 |
| NC_000014.7:g.91406441G>A | NCBI36 |
| NG_008254.1:g.82359C>T , LRG_364:g.82359C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557088.6:c.*1193C>T | ENSP00000451002.1:n.*1193C>T | |
| ENST00000557570.2:c.1059C>T | ENSP00000450787.2:p.Pro353= | |
| ENST00000706675.1:n.1042C>T | ||
| ENST00000706676.1:c.1401C>T | ENSP00000516492.1:p.Pro467= | |
| ENST00000706677.1:c.*11C>T | ENSP00000516493.1:n.*11C>T | |
| ENST00000706678.1:n.1147C>T | ||
| ENST00000706679.1:c.1059C>T | ENSP00000516494.1:p.Pro353= | |
| ENST00000706680.1:c.*1070C>T | ENSP00000516495.1:n.*1070C>T | |
| ENST00000706681.1:c.*966C>T | ENSP00000516496.1:n.*966C>T | |
| ENST00000342058.9:c.1227C>T MANE Select | ENSP00000345008.4:p.Pro409= | |
| ENST00000267620.14:c.1350C>T | ENSP00000267620.10:p.Pro450= | |
| ENST00000342058.8:c.1227C>T | ENSP00000345008.4:p.Pro409= | |
| ENST00000554121.2:n.353C>T | ||
| ENST00000556154.5:c.1242C>T | ENSP00000451982.1:p.Pro414= | |
| ENST00000556961.1:n.1362C>T | ||
| NM_006329.3:c.1227C>T , LRG_364t1:c.1227C>T | NP_006320.2:p.Pro409= | |
| XM_005267267.3:c.1278C>T | XP_005267324.1:p.Pro426= | |
| XM_011536356.1:c.*11C>T | XP_011534658.1:n.*11C>T | |
| XM_011536357.1:c.*11C>T | XP_011534659.1:n.*11C>T | |
| XM_011536358.1:c.*11C>T | XP_011534660.1:n.*11C>T | |
| XM_011536357.2:c.*11C>T | XP_011534659.1:n.*11C>T | |
| XM_011536358.2:c.*11C>T | XP_011534660.1:n.*11C>T | |
| XM_017020929.2:c.1059C>T | XP_016876418.1:p.Pro353= | |
| NM_001384158.1:c.1350C>T | NP_001371087.1:p.Pro450= | |
| NM_001384159.1:c.1278C>T | NP_001371088.1:p.Pro426= | |
| NM_001384160.1:c.*11C>T | NP_001371089.1:n.*11C>T | |
| NM_001384161.1:c.*11C>T | NP_001371090.1:n.*11C>T | |
| NM_001384162.1:c.1059C>T | NP_001371091.1:p.Pro353= | |
| NM_006329.4:c.1227C>T MANE Select | NP_006320.2:p.Pro409= |