Linked Data
ClinVar Variation Id:
139618
ClinVar RCV Id:
RCV000128561
dbSNP Id:
rs587777509
gnomAD v2:
2-25467433-A-T
PubMed:
PMID:24614070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25244564A>T , CM000664.2:g.25244564A>T | GRCh38 |
| NC_000002.11:g.25467433A>T , CM000664.1:g.25467433A>T | GRCh37 |
| NC_000002.10:g.25320937A>T | NCBI36 |
| NG_029465.2:g.103027T>A , LRG_459:g.103027T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683393.1:c.789T>A | ENSP00000508654.1:n.789T>A | |
| ENST00000683760.1:c.974T>A | ENSP00000507765.1:p.Met325Lys | |
| ENST00000321117.10:c.1643T>A MANE Select | ENSP00000324375.5:p.Met548Lys | |
| ENST00000264709.7:c.1643T>A | ENSP00000264709.3:p.Met548Lys | |
| ENST00000321117.9:c.1643T>A | ENSP00000324375.5:p.Met548Lys | |
| ENST00000380746.8:c.1076T>A | ENSP00000370122.4:p.Met359Lys | |
| ENST00000380756.7:c.1643T>A | ENSP00000370132.3:p.Met548Lys | |
| ENST00000402667.1:c.974T>A | ENSP00000384237.1:p.Met325Lys | |
| NM_022552.4:c.1643T>A , LRG_459t1:c.1643T>A | NP_072046.2:p.Met548Lys | |
| NM_153759.3:c.1076T>A , LRG_459t2:c.1076T>A | NP_715640.2:p.Met359Lys | |
| NM_175629.2:c.1643T>A , LRG_459t4:c.1643T>A | NP_783328.1:p.Met548Lys | |
| XM_005264175.3:c.1643T>A | XP_005264232.1:p.Met548Lys | |
| XM_005264177.3:c.974T>A | XP_005264234.1:p.Met325Lys | |
| XM_006711957.2:c.1643T>A | XP_006712020.1:p.Met548Lys | |
| XM_006711958.2:c.1199T>A | XP_006712021.1:p.Met400Lys | |
| XM_011532662.1:c.1496T>A | XP_011530964.1:p.Met499Lys | |
| XM_011532663.1:c.1478T>A | XP_011530965.1:p.Met493Lys | |
| XM_011532664.1:c.1643T>A | XP_011530966.1:p.Met548Lys | |
| XM_011532665.1:c.1187T>A | XP_011530967.1:p.Met396Lys | |
| XM_011532666.1:c.1115T>A | XP_011530968.1:p.Met372Lys | |
| XM_011532667.1:c.974T>A | XP_011530969.1:p.Met325Lys | |
| XM_011532668.1:c.1643T>A | XP_011530970.1:p.Met548Lys | |
| NM_001320893.1:c.1187T>A | NP_001307822.1:p.Met396Lys | |
| NR_135490.1:n.1981T>A | ||
| XM_005264175.5:c.1643T>A | XP_005264232.1:p.Met548Lys | |
| XM_005264177.4:c.974T>A | XP_005264234.1:p.Met325Lys | |
| XM_011532662.2:c.1496T>A | XP_011530964.1:p.Met499Lys | |
| XM_011532663.2:c.1478T>A | XP_011530965.1:p.Met493Lys | |
| XM_011532664.2:c.1643T>A | XP_011530966.1:p.Met548Lys | |
| XM_011532666.2:c.1115T>A | XP_011530968.1:p.Met372Lys | |
| XM_011532667.3:c.974T>A | XP_011530969.1:p.Met325Lys | |
| XM_017003526.1:c.1643T>A | XP_016859015.1:p.Met548Lys | |
| XM_017003527.1:c.974T>A | XP_016859016.1:p.Met325Lys | |
| XR_001738657.1:n.1920T>A | ||
| NM_001375819.1:c.974T>A | NP_001362748.1:p.Met325Lys | |
| NR_135490.2:n.1874T>A | ||
| NM_022552.5:c.1643T>A MANE Select | NP_072046.2:p.Met548Lys |