Linked Data
ClinVar Variation Id:
444437
dbSNP Id:
rs368918234
ExAC:
18:67834219 G / A
gnomAD v2:
18-67834219-G-A
gnomAD v3:
18-70166983-G-A
gnomAD v4:
18-70166983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70166983G>A , CM000680.2:g.70166983G>A | GRCh38 |
| NC_000018.9:g.67834219G>A , CM000680.1:g.67834219G>A | GRCh37 |
| NC_000018.8:g.65985199G>A | NCBI36 |
| NG_033104.1:g.43744C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255674.11:c.1738C>T | ENSP00000255674.7:p.Arg580Cys | |
| ENST00000638251.1:c.1738C>T | ENSP00000491968.1:p.Arg580Cys | |
| ENST00000640376.1:c.1219C>T | ENSP00000491654.1:p.Arg407Cys | |
| ENST00000640769.2:c.1738C>T MANE Select | ENSP00000491507.1:p.Arg580Cys | |
| ENST00000255674.10:c.1738C>T | ENSP00000255674.6:p.Arg580Cys | |
| ENST00000581161.5:c.*141C>T | ENSP00000462926.1:n.*141C>T | |
| ENST00000581583.1:n.1806C>T | ||
| ENST00000583043.5:c.1108C>T | ENSP00000462733.1:p.Arg370Cys | |
| ENST00000584659.5:n.334C>T | ||
| NM_173630.3:c.1738C>T | NP_775901.3:p.Arg580Cys | |
| XM_005266679.1:c.-910C>T | XP_005266736.1:n.-910C>T | |
| XM_006722434.2:c.1738C>T | XP_006722497.1:p.Arg580Cys | |
| XM_006722435.2:c.1738C>T | XP_006722498.1:p.Arg580Cys | |
| XM_011525902.1:c.1738C>T | XP_011524204.1:p.Arg580Cys | |
| XM_011525903.1:c.1738C>T | XP_011524205.1:p.Arg580Cys | |
| XM_011525904.1:c.1738C>T | XP_011524206.1:p.Arg580Cys | |
| XM_011525905.1:c.1738C>T | XP_011524207.1:p.Arg580Cys | |
| XM_011525906.1:c.238C>T | XP_011524208.1:p.Arg80Cys | |
| XM_011525907.1:c.1738C>T | XP_011524209.1:p.Arg580Cys | |
| XM_011525908.1:c.1738C>T | XP_011524210.1:p.Arg580Cys | |
| XR_430072.2:n.1776C>T | ||
| XR_935213.1:n.1776C>T | ||
| NM_001318520.1:c.-910C>T | NP_001305449.1:n.-910C>T | |
| XM_006722434.3:c.1738C>T | XP_006722497.1:p.Arg580Cys | |
| XM_006722435.3:c.1738C>T | XP_006722498.1:p.Arg580Cys | |
| XM_011525902.2:c.1738C>T | XP_011524204.1:p.Arg580Cys | |
| XM_011525903.2:c.1738C>T | XP_011524205.1:p.Arg580Cys | |
| XM_011525904.3:c.1738C>T | XP_011524206.1:p.Arg580Cys | |
| XM_011525905.2:c.1738C>T | XP_011524207.1:p.Arg580Cys | |
| XM_011525906.2:c.238C>T | XP_011524208.1:p.Arg80Cys | |
| XM_011525907.2:c.1738C>T | XP_011524209.1:p.Arg580Cys | |
| XM_011525908.3:c.1738C>T | XP_011524210.1:p.Arg580Cys | |
| XM_017025693.1:c.1738C>T | XP_016881182.1:p.Arg580Cys | |
| XM_017025694.1:c.1096C>T | XP_016881183.1:p.Arg366Cys | |
| XM_017025695.1:c.673C>T | XP_016881184.1:p.Arg225Cys | |
| XM_017025696.1:c.-434C>T | XP_016881185.1:n.-434C>T | |
| XM_024451139.1:c.958C>T | XP_024306907.1:p.Arg320Cys | |
| XM_024451140.1:c.958C>T | XP_024306908.1:p.Arg320Cys | |
| XR_430072.3:n.1806C>T | ||
| XR_935213.2:n.1806C>T | ||
| NM_001318520.2:c.-910C>T | NP_001305449.1:n.-910C>T | |
| NM_173630.4:c.1738C>T MANE Select | NP_775901.3:p.Arg580Cys |