Linked Data
dbSNP Id:
rs775586699
ExAC:
18:67794947 C / T
gnomAD v2:
18-67794947-C-T
gnomAD v4:
18-70127711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70127711C>T , CM000680.2:g.70127711C>T | GRCh38 |
| NC_000018.9:g.67794947C>T , CM000680.1:g.67794947C>T | GRCh37 |
| NC_000018.8:g.65945927C>T | NCBI36 |
| NG_033104.1:g.83016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255674.11:c.3174G>A | ENSP00000255674.7:p.Glu1058= | |
| ENST00000638251.1:c.*1166G>A | ENSP00000491968.1:n.*1166G>A | |
| ENST00000638298.1:c.163G>A | ||
| ENST00000639128.1:n.720G>A | ||
| ENST00000640376.1:c.2624+647G>A | ENSP00000491654.1:n.2624+647G>A | |
| ENST00000640408.1:n.3606G>A | ||
| ENST00000640769.2:c.3174G>A MANE Select | ENSP00000491507.1:p.Glu1058= | |
| ENST00000640931.1:c.395G>A | ||
| ENST00000677824.1:c.783-6011G>A | ENSP00000504646.1:n.783-6011G>A | |
| ENST00000679113.1:c.396G>A | ENSP00000504487.1:p.Glu132= | |
| ENST00000255674.10:c.3174G>A | ENSP00000255674.6:p.Glu1058= | |
| ENST00000581161.5:c.*1488G>A | ENSP00000462926.1:n.*1488G>A | |
| ENST00000583043.5:c.2455G>A | ENSP00000462733.1:n.2455G>A | |
| NM_173630.3:c.3174G>A | NP_775901.3:p.Glu1058= | |
| XM_005266679.1:c.438G>A | XP_005266736.1:p.Glu146= | |
| XM_006722434.2:c.3177G>A | XP_006722497.1:p.Glu1059= | |
| XM_006722435.2:c.3177G>A | XP_006722498.1:p.Glu1059= | |
| XM_011525902.1:c.3146+647G>A | XP_011524204.1:n.3146+647G>A | |
| XM_011525903.1:c.2958-6011G>A | XP_011524205.1:n.2958-6011G>A | |
| XM_011525904.1:c.3177G>A | XP_011524206.1:p.Glu1059= | |
| XM_011525905.1:c.3177G>A | XP_011524207.1:p.Glu1059= | |
| XM_011525906.1:c.1677G>A | XP_011524208.1:p.Glu559= | |
| XM_011525907.1:c.3177G>A | XP_011524209.1:p.Glu1059= | |
| XM_011525908.1:c.3177G>A | XP_011524210.1:p.Glu1059= | |
| XR_430072.2:n.3215G>A | ||
| XR_935213.1:n.3215G>A | ||
| NM_001318520.1:c.438G>A | NP_001305449.1:p.Glu146= | |
| XM_006722434.3:c.3177G>A | XP_006722497.1:p.Glu1059= | |
| XM_006722435.3:c.3177G>A | XP_006722498.1:p.Glu1059= | |
| XM_011525902.2:c.3146+647G>A | XP_011524204.1:n.3146+647G>A | |
| XM_011525903.2:c.2958-6011G>A | XP_011524205.1:n.2958-6011G>A | |
| XM_011525904.3:c.3177G>A | XP_011524206.1:p.Glu1059= | |
| XM_011525905.2:c.3177G>A | XP_011524207.1:p.Glu1059= | |
| XM_011525906.2:c.1677G>A | XP_011524208.1:p.Glu559= | |
| XM_011525907.2:c.3177G>A | XP_011524209.1:p.Glu1059= | |
| XM_011525908.3:c.3177G>A | XP_011524210.1:p.Glu1059= | |
| XM_017025693.1:c.3143+647G>A | XP_016881182.1:n.3143+647G>A | |
| XM_017025694.1:c.2535G>A | XP_016881183.1:p.Glu845= | |
| XM_017025695.1:c.2112G>A | XP_016881184.1:p.Glu704= | |
| XM_017025696.1:c.1068G>A | XP_016881185.1:p.Glu356= | |
| XM_024451139.1:c.2397G>A | XP_024306907.1:p.Glu799= | |
| XM_024451140.1:c.2397G>A | XP_024306908.1:p.Glu799= | |
| XR_430072.3:n.3245G>A | ||
| XR_935213.2:n.3245G>A | ||
| NM_001318520.2:c.438G>A | NP_001305449.1:p.Glu146= | |
| NM_173630.4:c.3174G>A MANE Select | NP_775901.3:p.Glu1058= |