Linked Data
ClinVar Variation Id:
337273
dbSNP Id:
rs149039591
ExAC:
2:85785573 T / C
gnomAD v2:
2-85785573-T-C
gnomAD v3:
2-85558450-T-C
gnomAD v4:
2-85558450-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85558450T>C , CM000664.2:g.85558450T>C | GRCh38 |
| NC_000002.11:g.85785573T>C , CM000664.1:g.85785573T>C | GRCh37 |
| NC_000002.10:g.85639084T>C | NCBI36 |
| NG_011811.2:g.8085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.626A>G | ||
| ENST00000482662.2:n.567A>G | ||
| ENST00000685865.1:n.932A>G | ||
| ENST00000687250.1:n.632A>G | ||
| ENST00000687995.1:n.881A>G | ||
| ENST00000688205.1:c.529A>G | ENSP00000509673.1:p.Asn177Asp | |
| ENST00000688788.1:n.932A>G | ||
| ENST00000689276.1:c.460A>G | ENSP00000510012.1:p.Asn154Asp | |
| ENST00000689576.1:c.529A>G | ENSP00000508712.1:p.Asn177Asp | |
| ENST00000690108.1:c.*185A>G | ENSP00000510617.1:n.*185A>G | |
| ENST00000690468.1:c.329A>G | ENSP00000509078.1:p.Lys110Arg | |
| ENST00000690595.1:c.214+2365A>G | ENSP00000508979.1:n.214+2365A>G | |
| ENST00000691348.1:c.358A>G | ENSP00000509369.1:p.Asn120Asp | |
| ENST00000691410.1:c.*185A>G | ENSP00000508479.1:n.*185A>G | |
| ENST00000693287.1:c.-66-2860A>G | ENSP00000510264.1:n.-66-2860A>G | |
| ENST00000693681.1:c.202+467A>G | ENSP00000510789.1:n.202+467A>G | |
| ENST00000233838.9:c.529A>G MANE Select | ENSP00000233838.3:p.Asn177Asp | |
| ENST00000233838.8:c.529A>G | ENSP00000233838.3:p.Asn177Asp | |
| ENST00000421496.5:c.*185A>G | ENSP00000400384.1:n.*185A>G | |
| ENST00000423570.5:c.*96+89A>G | ENSP00000389426.1:n.*96+89A>G | |
| ENST00000428479.3:c.*193A>G | ENSP00000390748.3:n.*193A>G | |
| ENST00000430215.7:c.358A>G | ENSP00000408045.3:p.Asn120Asp | |
| ENST00000465637.5:n.178+556A>G | ||
| NM_000821.5:c.529A>G | NP_000812.2:p.Asn177Asp | |
| NM_000821.6:c.529A>G | NP_000812.2:p.Asn177Asp | |
| NM_001142269.2:c.358A>G | NP_001135741.1:p.Asn120Asp | |
| NM_001142269.3:c.358A>G | NP_001135741.1:p.Asn120Asp | |
| XM_005264259.3:c.529A>G | XP_005264316.1:p.Asn177Asp | |
| XM_011532764.1:c.-130A>G | XP_011531066.1:n.-130A>G | |
| XM_011532765.1:c.-130A>G | XP_011531067.1:n.-130A>G | |
| XR_939677.1:n.594A>G | ||
| XM_005264259.5:c.529A>G | XP_005264316.1:p.Asn177Asp | |
| XM_011532764.3:c.-130A>G | XP_011531066.1:n.-130A>G | |
| XM_011532765.3:c.-130A>G | XP_011531067.1:n.-130A>G | |
| XM_017003803.2:c.358A>G | XP_016859292.1:p.Asn120Asp | |
| XR_001738703.2:n.594A>G | ||
| NM_000821.7:c.529A>G MANE Select | NP_000812.2:p.Asn177Asp | |
| NM_001142269.4:c.358A>G | NP_001135741.1:p.Asn120Asp |