Linked Data
ClinVar Variation Id:
198379
dbSNP Id:
rs754359356
gnomAD v2:
1-76205754-T-A
gnomAD v3:
1-75740069-T-A
gnomAD v4:
1-75740069-T-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75740069T>A , CM000663.2:g.75740069T>A | GRCh38 |
| NC_000001.10:g.76205754T>A , CM000663.1:g.76205754T>A | GRCh37 |
| NC_000001.9:g.75978342T>A | NCBI36 |
| NG_007045.2:g.20712T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.558T>A MANE Select | ENSP00000359878.5:p.Asn186Lys | |
| ENST00000473018.3:n.2682T>A | ||
| ENST00000541113.6:c.558T>A | ENSP00000442324.2:p.Asn186Lys | |
| ENST00000679509.1:n.1520T>A | ||
| ENST00000679530.1:c.*326T>A | ENSP00000506454.1:n.*326T>A | |
| ENST00000679615.1:n.2682T>A | ||
| ENST00000679687.1:c.120T>A | ENSP00000506598.1:p.Asn40Lys | |
| ENST00000679704.1:c.*324T>A | ENSP00000505117.1:n.*324T>A | |
| ENST00000679709.1:c.*521T>A | ENSP00000506623.1:n.*521T>A | |
| ENST00000679804.1:n.297T>A | ||
| ENST00000679976.1:c.*142T>A | ENSP00000505565.1:n.*142T>A | |
| ENST00000680166.1:n.3847T>A | ||
| ENST00000680517.1:c.*55T>A | ENSP00000505803.1:n.*55T>A | |
| ENST00000680582.1:n.1520T>A | ||
| ENST00000680613.1:c.558T>A | ENSP00000506114.1:p.Asn186Lys | |
| ENST00000680662.1:c.*472T>A | ENSP00000505080.1:n.*472T>A | |
| ENST00000680691.1:c.*221T>A | ENSP00000506487.1:n.*221T>A | |
| ENST00000680694.1:c.*146T>A | ENSP00000505658.1:n.*146T>A | |
| ENST00000680743.1:c.*225T>A | ENSP00000505073.1:n.*225T>A | |
| ENST00000680749.1:c.558T>A | ENSP00000505122.1:p.Asn186Lys | |
| ENST00000680798.1:c.*142T>A | ENSP00000505670.1:n.*142T>A | |
| ENST00000680805.1:c.558T>A | ENSP00000505447.1:p.Asn186Lys | |
| ENST00000680844.1:c.*342T>A | ENSP00000506541.1:n.*342T>A | |
| ENST00000680948.1:c.*425T>A | ENSP00000505441.1:n.*425T>A | |
| ENST00000680964.1:c.558T>A | ENSP00000505961.1:p.Asn186Lys | |
| ENST00000681037.1:c.558T>A | ENSP00000506025.1:p.Asn186Lys | |
| ENST00000681063.1:c.558T>A | ENSP00000506616.1:p.Asn186Lys | |
| ENST00000681209.1:c.*322T>A | ENSP00000505877.1:n.*322T>A | |
| ENST00000681278.1:n.915T>A | ||
| ENST00000681289.1:n.915T>A | ||
| ENST00000681361.1:c.*225T>A | ENSP00000506679.1:n.*225T>A | |
| ENST00000681430.1:c.558T>A | ENSP00000506301.1:p.Asn186Lys | |
| ENST00000681446.1:c.*140T>A | ENSP00000506244.1:n.*140T>A | |
| ENST00000681450.1:c.*229T>A | ENSP00000505660.1:n.*229T>A | |
| ENST00000681548.1:c.*144T>A | ENSP00000505275.1:n.*144T>A | |
| ENST00000681616.1:c.*326T>A | ENSP00000505111.1:n.*326T>A | |
| ENST00000681621.1:c.*142T>A | ENSP00000505770.1:n.*142T>A | |
| ENST00000681680.1:n.2682T>A | ||
| ENST00000681720.1:c.*55-5737T>A | ENSP00000505438.1:n.*55-5737T>A | |
| ENST00000681730.1:n.780T>A | ||
| ENST00000681790.1:c.300T>A | ENSP00000505130.1:p.Asn100Lys | |
| ENST00000681837.1:n.1174T>A | ||
| ENST00000681913.1:n.2682T>A | ||
| ENST00000681916.1:c.*326T>A | ENSP00000506477.1:n.*326T>A | |
| ENST00000681930.1:n.2682T>A | ||
| ENST00000370834.9:c.657T>A | ENSP00000359871.5:p.Asn219Lys | |
| ENST00000370841.8:c.558T>A | ENSP00000359878.4:p.Asn186Lys | |
| ENST00000420607.6:c.570T>A | ENSP00000409612.2:p.Asn190Lys | |
| ENST00000525808.5:c.*144T>A | ENSP00000434823.1:n.*144T>A | |
| ENST00000526129.5:c.*342T>A | ENSP00000434092.1:n.*342T>A | |
| ENST00000526196.5:c.*326T>A | ENSP00000431953.1:n.*326T>A | |
| ENST00000526930.1:n.331T>A | ||
| ENST00000529059.5:n.467T>A | ||
| ENST00000530953.6:c.*55T>A | ENSP00000431372.1:n.*55T>A | |
| ENST00000532509.5:c.*322T>A | ENSP00000432522.1:n.*322T>A | |
| ENST00000534334.5:c.*142T>A | ENSP00000435584.1:n.*142T>A | |
| ENST00000541113.5:c.450T>A | ENSP00000442324.1:p.Asn150Lys | |
| NM_000016.5:c.558T>A | NP_000007.1:p.Asn186Lys | |
| NM_001127328.2:c.570T>A | NP_001120800.1:p.Asn190Lys | |
| NM_001286042.1:c.450T>A | NP_001272971.1:p.Asn150Lys | |
| NM_001286043.1:c.657T>A | NP_001272972.1:p.Asn219Lys | |
| NM_001286044.1:c.-10T>A | NP_001272973.1:n.-10T>A | |
| NM_000016.6:c.558T>A MANE Select | NP_000007.1:p.Asn186Lys | |
| NM_001127328.3:c.570T>A | NP_001120800.1:p.Asn190Lys | |
| NM_001286042.2:c.450T>A | NP_001272971.1:p.Asn150Lys | |
| NM_001286043.2:c.657T>A | NP_001272972.1:p.Asn219Lys | |
| NM_001286044.2:c.-10T>A | NP_001272973.1:n.-10T>A |