Linked Data
dbSNP Id:
rs539925103
ExAC:
6:152461281 C / G
gnomAD v2:
6-152461281-C-G
gnomAD v3:
6-152140146-C-G
gnomAD v4:
6-152140146-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140146C>G , CM000668.2:g.152140146C>G | GRCh38 |
| NC_000006.11:g.152461281C>G , CM000668.1:g.152461281C>G | GRCh37 |
| NC_000006.10:g.152502974C>G | NCBI36 |
| NG_012855.1:g.502254G>C | |
| NG_012855.2:g.502254G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1796G>C MANE Plus Clinical | ENSP00000346701.4:p.Trp599Ser | |
| ENST00000367255.10:c.25262G>C MANE Select | ENSP00000356224.5:p.Trp8421Ser | |
| ENST00000423061.6:c.25118G>C | ENSP00000396024.1:p.Trp8373Ser | |
| ENST00000672154.1:c.664G>C | ||
| ENST00000672169.1:c.997G>C | ||
| ENST00000673173.1:c.906G>C | ||
| ENST00000673451.1:c.1034G>C | ENSP00000500189.1:p.Trp345Ser | |
| ENST00000341594.9:c.24047G>C | ENSP00000341887.6:p.Trp8016Ser | |
| ENST00000347037.9:n.2010G>C | ||
| ENST00000354674.4:c.1796G>C | ENSP00000346701.4:p.Trp599Ser | |
| ENST00000367251.7:c.4097G>C | ENSP00000356220.3:p.Trp1366Ser | |
| ENST00000367255.9:c.25262G>C | ENSP00000356224.5:p.Trp8421Ser | |
| ENST00000367256.9:n.8954G>C | ||
| ENST00000367257.8:c.3200G>C | ENSP00000356226.4:p.Trp1067Ser | |
| ENST00000409694.6:n.8846G>C | ||
| ENST00000423061.5:c.25118G>C | ENSP00000396024.1:p.Trp8373Ser | |
| ENST00000460912.6:n.1876G>C | ||
| ENST00000478916.5:n.4284G>C | ||
| ENST00000536990.5:n.2099G>C | ||
| ENST00000539504.5:c.1727G>C | ENSP00000441052.1:p.Trp576Ser | |
| NM_033071.3:c.25118G>C | NP_149062.1:p.Trp8373Ser | |
| NM_182961.3:c.25262G>C | NP_892006.3:p.Trp8421Ser | |
| XM_006715407.1:c.25367G>C | XP_006715470.1:p.Trp8456Ser | |
| XM_006715408.1:c.25355G>C | XP_006715471.1:p.Trp8452Ser | |
| XM_006715409.1:c.25346G>C | XP_006715472.1:p.Trp8449Ser | |
| XM_006715410.1:c.25367G>C | XP_006715473.1:p.Trp8456Ser | |
| XM_006715411.1:c.25316G>C | XP_006715474.1:p.Trp8439Ser | |
| XM_006715412.1:c.25352G>C | XP_006715475.1:p.Trp8451Ser | |
| XM_006715413.1:c.25298G>C | XP_006715476.1:p.Trp8433Ser | |
| XM_006715414.1:c.25295G>C | XP_006715477.1:p.Trp8432Ser | |
| XM_006715415.1:c.25298G>C | XP_006715478.1:p.Trp8433Ser | |
| XM_006715416.1:c.25283G>C | XP_006715479.1:p.Trp8428Ser | |
| XM_006715417.1:c.25226G>C | XP_006715480.1:p.Trp8409Ser | |
| XM_006715420.1:c.25214G>C | XP_006715483.1:p.Trp8405Ser | |
| XM_006715421.1:c.25211G>C | XP_006715484.1:p.Trp8404Ser | |
| XM_006715422.1:c.25208G>C | XP_006715485.1:p.Trp8403Ser | |
| XM_006715423.1:c.25367G>C | XP_006715486.1:p.Trp8456Ser | |
| XM_006715424.1:c.25367G>C | XP_006715487.1:p.Trp8456Ser | |
| XM_006715425.1:c.25298G>C | XP_006715488.1:p.Trp8433Ser | |
| XM_011535641.1:c.25364G>C | XP_011533943.1:p.Trp8455Ser | |
| XM_011535642.1:c.25352G>C | XP_011533944.1:p.Trp8451Ser | |
| XM_011535643.1:c.25202G>C | XP_011533945.1:p.Trp8401Ser | |
| XM_011535644.1:c.23642G>C | XP_011533946.1:p.Trp7881Ser | |
| XM_011535645.1:c.23135G>C | XP_011533947.1:p.Trp7712Ser | |
| XM_011535647.1:c.18602G>C | XP_011533949.1:p.Trp6201Ser | |
| NM_001347701.1:c.1868G>C | NP_001334630.1:p.Trp623Ser | |
| NM_001347702.1:c.1796G>C | NP_001334631.1:p.Trp599Ser | |
| XM_006715408.2:c.25355G>C | XP_006715471.1:p.Trp8452Ser | |
| XM_006715410.2:c.25367G>C | XP_006715473.1:p.Trp8456Ser | |
| XM_006715412.2:c.25352G>C | XP_006715475.1:p.Trp8451Ser | |
| XM_006715413.2:c.25298G>C | XP_006715476.1:p.Trp8433Ser | |
| XM_006715415.2:c.25298G>C | XP_006715478.1:p.Trp8433Ser | |
| XM_006715416.2:c.25283G>C | XP_006715479.1:p.Trp8428Ser | |
| XM_006715417.2:c.25226G>C | XP_006715480.1:p.Trp8409Ser | |
| XM_006715420.2:c.25214G>C | XP_006715483.1:p.Trp8405Ser | |
| XM_006715421.2:c.25211G>C | XP_006715484.1:p.Trp8404Ser | |
| XM_006715423.2:c.25367G>C | XP_006715486.1:p.Trp8456Ser | |
| XM_006715424.2:c.25367G>C | XP_006715487.1:p.Trp8456Ser | |
| XM_006715425.2:c.25298G>C | XP_006715488.1:p.Trp8433Ser | |
| XM_011535641.2:c.25364G>C | XP_011533943.1:p.Trp8455Ser | |
| XM_011535642.2:c.25352G>C | XP_011533944.1:p.Trp8451Ser | |
| XM_011535645.2:c.23135G>C | XP_011533947.1:p.Trp7712Ser | |
| XM_017010608.1:c.25367G>C | XP_016866097.1:p.Trp8456Ser | |
| XM_017010609.1:c.25367G>C | XP_016866098.1:p.Trp8456Ser | |
| XM_017010610.1:c.25346G>C | XP_016866099.1:p.Trp8449Ser | |
| XM_017010611.2:c.25340G>C | XP_016866100.1:p.Trp8447Ser | |
| XM_017010612.1:c.25289G>C | XP_016866101.1:p.Trp8430Ser | |
| XM_017010613.1:c.25295G>C | XP_016866102.1:p.Trp8432Ser | |
| XM_017010614.1:c.25211G>C | XP_016866103.1:p.Trp8404Ser | |
| XM_017010615.1:c.25142G>C | XP_016866104.1:p.Trp8381Ser | |
| XM_017010616.1:c.25298G>C | XP_016866105.1:p.Trp8433Ser | |
| XM_017010617.1:c.25295G>C | XP_016866106.1:p.Trp8432Ser | |
| XM_017010618.1:c.25283G>C | XP_016866107.1:p.Trp8428Ser | |
| XM_017010619.1:c.23642G>C | XP_016866108.1:p.Trp7881Ser | |
| NM_182961.4:c.25262G>C MANE Select | NP_892006.3:p.Trp8421Ser | |
| NM_001347701.2:c.1868G>C | NP_001334630.1:p.Trp623Ser | |
| NM_001347702.2:c.1796G>C MANE Plus Clinical | NP_001334631.1:p.Trp599Ser | |
| NM_033071.5:c.25118G>C | NP_149062.2:p.Trp8373Ser |