Linked Data
ClinVar Variation Id:
446144
ClinVar RCV Id:
RCV000515139
dbSNP Id:
rs1554104276
gnomAD v4:
5-123399167-A-G
PubMed:
PMID:27208211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.123399167A>G , CM000667.2:g.123399167A>G | GRCh38 |
| NC_000005.9:g.122734861A>G , CM000667.1:g.122734861A>G | GRCh37 |
| NC_000005.8:g.122762760A>G | NCBI36 |
| NG_042125.1:g.29426T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306467.10:c.581T>C MANE Select | ENSP00000303058.6:p.Val194Ala | |
| ENST00000306481.11:c.503T>C | ENSP00000307419.6:p.Val168Ala | |
| ENST00000328236.10:c.581T>C | ENSP00000327504.5:p.Val194Ala | |
| ENST00000503049.2:n.636T>C | ||
| ENST00000508442.7:c.503T>C | ENSP00000421620.3:p.Val168Ala | |
| ENST00000674620.1:c.*67T>C | ENSP00000501651.1:n.*67T>C | |
| ENST00000674667.1:c.581T>C | ENSP00000502819.1:p.Val194Ala | |
| ENST00000674684.1:c.581T>C | ENSP00000501697.1:p.Val194Ala | |
| ENST00000675003.1:n.951T>C | ||
| ENST00000675104.1:c.581T>C | ENSP00000502078.1:p.Val194Ala | |
| ENST00000675283.1:n.416T>C | ||
| ENST00000675330.1:c.581T>C | ENSP00000502634.1:p.Val194Ala | |
| ENST00000675409.1:n.1031T>C | ||
| ENST00000675442.1:c.503T>C | ENSP00000502221.1:p.Val168Ala | |
| ENST00000675444.1:n.1004T>C | ||
| ENST00000675686.1:c.*477T>C | ENSP00000501801.1:n.*477T>C | |
| ENST00000675814.1:c.*134T>C | ENSP00000502121.1:n.*134T>C | |
| ENST00000675852.1:n.1483T>C | ||
| ENST00000306467.9:c.581T>C | ENSP00000303058.5:p.Val194Ala | |
| ENST00000306481.10:c.503T>C | ENSP00000307419.6:p.Val168Ala | |
| ENST00000328236.9:c.581T>C | ENSP00000327504.5:p.Val194Ala | |
| ENST00000508138.5:c.*153T>C | ENSP00000422234.1:n.*153T>C | |
| ENST00000508442.6:c.503T>C | ENSP00000421620.2:p.Val168Ala | |
| ENST00000513565.6:c.581T>C | ENSP00000422089.2:p.Val194Ala | |
| NM_001166226.1:c.503T>C | NP_001159698.1:p.Val168Ala | |
| NM_153223.3:c.581T>C | NP_694955.2:p.Val194Ala | |
| XM_005271901.3:c.581T>C | XP_005271958.1:p.Val194Ala | |
| XM_011543185.1:c.503T>C | XP_011541487.1:p.Val168Ala | |
| XM_005271901.5:c.581T>C | XP_005271958.1:p.Val194Ala | |
| XM_011543185.2:c.503T>C | XP_011541487.1:p.Val168Ala | |
| XM_011543186.2:c.-1015T>C | XP_011541488.1:n.-1015T>C | |
| XM_017009085.1:c.-880T>C | XP_016864574.1:n.-880T>C | |
| XM_024454370.1:c.581T>C | XP_024310138.1:p.Val194Ala | |
| NM_001375405.1:c.581T>C MANE Select | NP_001362334.1:p.Val194Ala | |
| NM_001375406.1:c.581T>C | NP_001362335.1:p.Val194Ala | |
| NM_001375407.1:c.581T>C | NP_001362336.1:p.Val194Ala | |
| NM_001375408.1:c.8T>C | NP_001362337.1:p.Val3Ala | |
| NM_001375409.1:c.8T>C | NP_001362338.1:p.Val3Ala | |
| NR_164685.1:n.986T>C | ||
| NM_001166226.2:c.503T>C | NP_001159698.1:p.Val168Ala | |
| NM_153223.4:c.581T>C | NP_694955.2:p.Val194Ala |