Linked Data
ClinVar Variation Id:
97021
ClinVar RCV Id:
RCV000083267
dbSNP Id:
rs431905518
PubMed:
PMID:24164807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103420821C>T , CM000669.2:g.103420821C>T | GRCh38 |
| NC_000007.13:g.103061268C>T , CM000669.1:g.103061268C>T | GRCh37 |
| NC_000007.12:g.102848504C>T | NCBI36 |
| NG_023055.1:g.30357G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306312.8:c.209G>A MANE Select | ENSP00000304783.3:p.Trp70Ter | |
| ENST00000306312.7:c.209G>A | ENSP00000304783.3:p.Trp70Ter | |
| ENST00000339444.10:c.209G>A | ENSP00000342396.6:p.Trp70Ter | |
| ENST00000354356.8:c.209G>A | ENSP00000346325.5:p.Trp70Ter | |
| ENST00000356767.8:c.209G>A | ENSP00000349210.4:p.Trp70Ter | |
| ENST00000393723.2:c.209G>A | ENSP00000377324.1:p.Trp70Ter | |
| ENST00000393727.5:c.209G>A | ENSP00000377328.1:p.Trp70Ter | |
| ENST00000393729.5:c.209G>A | ENSP00000377330.1:p.Trp70Ter | |
| ENST00000393730.5:c.209G>A | ENSP00000377331.1:p.Trp70Ter | |
| ENST00000393735.6:c.209G>A | ENSP00000377336.2:p.Trp70Ter | |
| ENST00000423416.5:c.209G>A | ENSP00000389018.1:p.Trp70Ter | |
| ENST00000432958.6:c.209G>A | ENSP00000389733.2:p.Trp70Ter | |
| ENST00000445809.5:c.209G>A | ENSP00000396833.1:p.Trp70Ter | |
| ENST00000454864.5:c.209G>A | ENSP00000416502.1:p.Trp70Ter | |
| ENST00000456463.5:c.209G>A | ENSP00000395568.1:p.Trp70Ter | |
| ENST00000487407.1:n.471G>A | ||
| NM_001167962.1:c.209G>A | NP_001161434.1:p.Trp70Ter | |
| NM_198999.2:c.209G>A | NP_945350.1:p.Trp70Ter | |
| NM_206883.2:c.209G>A | NP_996766.1:p.Trp70Ter | |
| NM_206884.2:c.209G>A | NP_996767.1:p.Trp70Ter | |
| NM_206885.2:c.209G>A | NP_996768.1:p.Trp70Ter | |
| NR_120441.1:n.391G>A | ||
| NR_120442.1:n.391G>A | ||
| NR_120443.1:n.391G>A | ||
| XM_011516170.1:c.209G>A | XP_011514472.1:p.Trp70Ter | |
| NM_001321787.1:c.209G>A | NP_001308716.1:p.Trp70Ter | |
| NR_135801.1:n.471G>A | ||
| NR_135802.1:n.471G>A | ||
| XM_011516170.3:c.209G>A | XP_011514472.1:p.Trp70Ter | |
| XR_001744725.2:n.471G>A | ||
| XR_001744726.1:n.1261G>A | ||
| XR_001744727.2:n.471G>A | ||
| XR_002956437.1:n.471G>A | ||
| NM_001321787.2:c.209G>A | NP_001308716.1:p.Trp70Ter | |
| NM_198999.3:c.209G>A MANE Select | NP_945350.1:p.Trp70Ter | |
| NM_206883.3:c.209G>A | NP_996766.1:p.Trp70Ter | |
| NM_206884.3:c.209G>A | NP_996767.1:p.Trp70Ter | |
| NM_206885.3:c.209G>A | NP_996768.1:p.Trp70Ter | |
| NR_135802.2:n.501G>A | ||
| NM_001167962.2:c.209G>A | NP_001161434.1:p.Trp70Ter | |
| NR_135801.2:n.501G>A |