Linked Data
ClinVar Variation Id:
2784123
ClinVar RCV Id:
RCV003660181
dbSNP Id:
rs201191163
ExAC:
14:92344001 G / A
gnomAD v2:
14-92344001-G-A
gnomAD v3:
14-91877657-G-A
gnomAD v4:
14-91877657-G-A
COSMIC:
COSM3498947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877657G>A , CM000676.2:g.91877657G>A | GRCh38 |
| NC_000014.8:g.92344001G>A , CM000676.1:g.92344001G>A | GRCh37 |
| NC_000014.7:g.91413754G>A | NCBI36 |
| NG_008254.1:g.75046C>T , LRG_364:g.75046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*981C>T | ENSP00000451002.1:n.*981C>T | |
| ENST00000557570.2:c.847C>T | ENSP00000450787.2:p.Pro283Ser | |
| ENST00000706675.1:n.830C>T | ||
| ENST00000706676.1:c.1189C>T | ENSP00000516492.1:p.Pro397Ser | |
| ENST00000706677.1:c.1015C>T | ENSP00000516493.1:p.Pro339Ser | |
| ENST00000706678.1:n.935C>T | ||
| ENST00000706679.1:c.847C>T | ENSP00000516494.1:p.Pro283Ser | |
| ENST00000706680.1:c.*858C>T | ENSP00000516495.1:n.*858C>T | |
| ENST00000706681.1:c.*754C>T | ENSP00000516496.1:n.*754C>T | |
| ENST00000342058.9:c.1015C>T MANE Select | ENSP00000345008.4:p.Pro339Ser | |
| ENST00000267620.14:c.1138C>T | ENSP00000267620.10:p.Pro380Ser | |
| ENST00000342058.8:c.1015C>T | ENSP00000345008.4:p.Pro339Ser | |
| ENST00000554121.2:n.141C>T | ||
| ENST00000556154.5:c.1030C>T | ENSP00000451982.1:p.Pro344Ser | |
| NM_006329.3:c.1015C>T , LRG_364t1:c.1015C>T | NP_006320.2:p.Pro339Ser | |
| XM_005267267.3:c.1066C>T | XP_005267324.1:p.Pro356Ser | |
| XM_011536356.1:c.1066C>T | XP_011534658.1:p.Pro356Ser | |
| XM_011536357.1:c.1015C>T | XP_011534659.1:p.Pro339Ser | |
| XM_011536358.1:c.847C>T | XP_011534660.1:p.Pro283Ser | |
| XM_011536357.2:c.1015C>T | XP_011534659.1:p.Pro339Ser | |
| XM_011536358.2:c.847C>T | XP_011534660.1:p.Pro283Ser | |
| XM_017020929.2:c.847C>T | XP_016876418.1:p.Pro283Ser | |
| NM_001384158.1:c.1138C>T | NP_001371087.1:p.Pro380Ser | |
| NM_001384159.1:c.1066C>T | NP_001371088.1:p.Pro356Ser | |
| NM_001384160.1:c.1015C>T | NP_001371089.1:p.Pro339Ser | |
| NM_001384161.1:c.847C>T | NP_001371090.1:p.Pro283Ser | |
| NM_001384162.1:c.847C>T | NP_001371091.1:p.Pro283Ser | |
| NM_006329.4:c.1015C>T MANE Select | NP_006320.2:p.Pro339Ser |