Linked Data
dbSNP Id:
rs1229627235
gnomAD v2:
6-152461184-C-G
gnomAD v3:
6-152140049-C-G
gnomAD v4:
6-152140049-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140049C>G , CM000668.2:g.152140049C>G | GRCh38 |
| NC_000006.11:g.152461184C>G , CM000668.1:g.152461184C>G | GRCh37 |
| NC_000006.10:g.152502877C>G | NCBI36 |
| NG_012855.1:g.502351G>C | |
| NG_012855.2:g.502351G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1893G>C MANE Plus Clinical | ENSP00000346701.4:p.Trp631Cys | |
| ENST00000367255.10:c.25359G>C MANE Select | ENSP00000356224.5:p.Trp8453Cys | |
| ENST00000423061.6:c.25215G>C | ENSP00000396024.1:p.Trp8405Cys | |
| ENST00000672154.1:c.761G>C | ||
| ENST00000672169.1:c.1094G>C | ||
| ENST00000673173.1:c.1003G>C | ||
| ENST00000673451.1:c.1131G>C | ENSP00000500189.1:p.Trp377Cys | |
| ENST00000341594.9:c.24144G>C | ENSP00000341887.6:p.Trp8048Cys | |
| ENST00000347037.9:n.2107G>C | ||
| ENST00000354674.4:c.1893G>C | ENSP00000346701.4:p.Trp631Cys | |
| ENST00000367251.7:c.4194G>C | ENSP00000356220.3:p.Trp1398Cys | |
| ENST00000367255.9:c.25359G>C | ENSP00000356224.5:p.Trp8453Cys | |
| ENST00000367256.9:n.9051G>C | ||
| ENST00000367257.8:c.3297G>C | ENSP00000356226.4:p.Trp1099Cys | |
| ENST00000409694.6:n.8943G>C | ||
| ENST00000423061.5:c.25215G>C | ENSP00000396024.1:p.Trp8405Cys | |
| ENST00000460912.6:n.1973G>C | ||
| ENST00000478916.5:n.4381G>C | ||
| ENST00000536990.5:n.2196G>C | ||
| ENST00000539504.5:c.1824G>C | ENSP00000441052.1:p.Trp608Cys | |
| NM_033071.3:c.25215G>C | NP_149062.1:p.Trp8405Cys | |
| NM_182961.3:c.25359G>C | NP_892006.3:p.Trp8453Cys | |
| XM_006715407.1:c.25464G>C | XP_006715470.1:p.Trp8488Cys | |
| XM_006715408.1:c.25452G>C | XP_006715471.1:p.Trp8484Cys | |
| XM_006715409.1:c.25443G>C | XP_006715472.1:p.Trp8481Cys | |
| XM_006715410.1:c.25464G>C | XP_006715473.1:p.Trp8488Cys | |
| XM_006715411.1:c.25413G>C | XP_006715474.1:p.Trp8471Cys | |
| XM_006715412.1:c.25449G>C | XP_006715475.1:p.Trp8483Cys | |
| XM_006715413.1:c.25395G>C | XP_006715476.1:p.Trp8465Cys | |
| XM_006715414.1:c.25392G>C | XP_006715477.1:p.Trp8464Cys | |
| XM_006715415.1:c.25395G>C | XP_006715478.1:p.Trp8465Cys | |
| XM_006715416.1:c.25380G>C | XP_006715479.1:p.Trp8460Cys | |
| XM_006715417.1:c.25323G>C | XP_006715480.1:p.Trp8441Cys | |
| XM_006715420.1:c.25311G>C | XP_006715483.1:p.Trp8437Cys | |
| XM_006715421.1:c.25308G>C | XP_006715484.1:p.Trp8436Cys | |
| XM_006715422.1:c.25305G>C | XP_006715485.1:p.Trp8435Cys | |
| XM_006715423.1:c.25464G>C | XP_006715486.1:p.Trp8488Cys | |
| XM_006715424.1:c.25464G>C | XP_006715487.1:p.Trp8488Cys | |
| XM_006715425.1:c.25395G>C | XP_006715488.1:p.Trp8465Cys | |
| XM_011535641.1:c.25461G>C | XP_011533943.1:p.Trp8487Cys | |
| XM_011535642.1:c.25449G>C | XP_011533944.1:p.Trp8483Cys | |
| XM_011535643.1:c.25299G>C | XP_011533945.1:p.Trp8433Cys | |
| XM_011535644.1:c.23739G>C | XP_011533946.1:p.Trp7913Cys | |
| XM_011535645.1:c.23232G>C | XP_011533947.1:p.Trp7744Cys | |
| XM_011535647.1:c.18699G>C | XP_011533949.1:p.Trp6233Cys | |
| NM_001347701.1:c.1965G>C | NP_001334630.1:p.Trp655Cys | |
| NM_001347702.1:c.1893G>C | NP_001334631.1:p.Trp631Cys | |
| XM_006715408.2:c.25452G>C | XP_006715471.1:p.Trp8484Cys | |
| XM_006715410.2:c.25464G>C | XP_006715473.1:p.Trp8488Cys | |
| XM_006715412.2:c.25449G>C | XP_006715475.1:p.Trp8483Cys | |
| XM_006715413.2:c.25395G>C | XP_006715476.1:p.Trp8465Cys | |
| XM_006715415.2:c.25395G>C | XP_006715478.1:p.Trp8465Cys | |
| XM_006715416.2:c.25380G>C | XP_006715479.1:p.Trp8460Cys | |
| XM_006715417.2:c.25323G>C | XP_006715480.1:p.Trp8441Cys | |
| XM_006715420.2:c.25311G>C | XP_006715483.1:p.Trp8437Cys | |
| XM_006715421.2:c.25308G>C | XP_006715484.1:p.Trp8436Cys | |
| XM_006715423.2:c.25464G>C | XP_006715486.1:p.Trp8488Cys | |
| XM_006715424.2:c.25464G>C | XP_006715487.1:p.Trp8488Cys | |
| XM_006715425.2:c.25395G>C | XP_006715488.1:p.Trp8465Cys | |
| XM_011535641.2:c.25461G>C | XP_011533943.1:p.Trp8487Cys | |
| XM_011535642.2:c.25449G>C | XP_011533944.1:p.Trp8483Cys | |
| XM_011535645.2:c.23232G>C | XP_011533947.1:p.Trp7744Cys | |
| XM_017010608.1:c.25464G>C | XP_016866097.1:p.Trp8488Cys | |
| XM_017010609.1:c.25464G>C | XP_016866098.1:p.Trp8488Cys | |
| XM_017010610.1:c.25443G>C | XP_016866099.1:p.Trp8481Cys | |
| XM_017010611.2:c.25437G>C | XP_016866100.1:p.Trp8479Cys | |
| XM_017010612.1:c.25386G>C | XP_016866101.1:p.Trp8462Cys | |
| XM_017010613.1:c.25392G>C | XP_016866102.1:p.Trp8464Cys | |
| XM_017010614.1:c.25308G>C | XP_016866103.1:p.Trp8436Cys | |
| XM_017010615.1:c.25239G>C | XP_016866104.1:p.Trp8413Cys | |
| XM_017010616.1:c.25395G>C | XP_016866105.1:p.Trp8465Cys | |
| XM_017010617.1:c.25392G>C | XP_016866106.1:p.Trp8464Cys | |
| XM_017010618.1:c.25380G>C | XP_016866107.1:p.Trp8460Cys | |
| XM_017010619.1:c.23739G>C | XP_016866108.1:p.Trp7913Cys | |
| NM_182961.4:c.25359G>C MANE Select | NP_892006.3:p.Trp8453Cys | |
| NM_001347701.2:c.1965G>C | NP_001334630.1:p.Trp655Cys | |
| NM_001347702.2:c.1893G>C MANE Plus Clinical | NP_001334631.1:p.Trp631Cys | |
| NM_033071.5:c.25215G>C | NP_149062.2:p.Trp8405Cys |