Linked Data
ClinVar Variation Id:
37206
dbSNP Id:
rs201884120
ExAC:
18:67872503 C / T
gnomAD v2:
18-67872503-C-T
gnomAD v3:
18-70205267-C-T
gnomAD v4:
18-70205267-C-T
PubMed:
PMID:22939636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70205267C>T , CM000680.2:g.70205267C>T | GRCh38 |
| NC_000018.9:g.67872503C>T , CM000680.1:g.67872503C>T | GRCh37 |
| NC_000018.8:g.66023483C>T | NCBI36 |
| NG_033104.1:g.5460G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255674.11:c.80G>A | ENSP00000255674.7:p.Cys27Tyr | |
| ENST00000638251.1:c.80G>A | ENSP00000491968.1:p.Cys27Tyr | |
| ENST00000640769.2:c.80G>A MANE Select | ENSP00000491507.1:p.Cys27Tyr | |
| ENST00000255674.10:c.80G>A | ENSP00000255674.6:p.Cys27Tyr | |
| ENST00000581161.5:c.80G>A | ENSP00000462926.1:p.Cys27Tyr | |
| ENST00000581583.1:n.148G>A | ||
| NM_173630.3:c.80G>A | NP_775901.3:p.Cys27Tyr | |
| XM_005266679.1:c.-2474G>A | XP_005266736.1:n.-2474G>A | |
| XM_006722434.2:c.80G>A | XP_006722497.1:p.Cys27Tyr | |
| XM_006722435.2:c.80G>A | XP_006722498.1:p.Cys27Tyr | |
| XM_011525902.1:c.80G>A | XP_011524204.1:p.Cys27Tyr | |
| XM_011525903.1:c.80G>A | XP_011524205.1:p.Cys27Tyr | |
| XM_011525904.1:c.80G>A | XP_011524206.1:p.Cys27Tyr | |
| XM_011525905.1:c.80G>A | XP_011524207.1:p.Cys27Tyr | |
| XM_011525907.1:c.80G>A | XP_011524209.1:p.Cys27Tyr | |
| XM_011525908.1:c.80G>A | XP_011524210.1:p.Cys27Tyr | |
| XR_430072.2:n.118G>A | ||
| XR_935213.1:n.118G>A | ||
| NM_001318520.1:c.-2474G>A | NP_001305449.1:n.-2474G>A | |
| XM_006722434.3:c.80G>A | XP_006722497.1:p.Cys27Tyr | |
| XM_006722435.3:c.80G>A | XP_006722498.1:p.Cys27Tyr | |
| XM_011525902.2:c.80G>A | XP_011524204.1:p.Cys27Tyr | |
| XM_011525903.2:c.80G>A | XP_011524205.1:p.Cys27Tyr | |
| XM_011525904.3:c.80G>A | XP_011524206.1:p.Cys27Tyr | |
| XM_011525905.2:c.80G>A | XP_011524207.1:p.Cys27Tyr | |
| XM_011525907.2:c.80G>A | XP_011524209.1:p.Cys27Tyr | |
| XM_011525908.3:c.80G>A | XP_011524210.1:p.Cys27Tyr | |
| XM_017025693.1:c.80G>A | XP_016881182.1:p.Cys27Tyr | |
| XM_017025696.1:c.-2092G>A | XP_016881185.1:n.-2092G>A | |
| XR_430072.3:n.148G>A | ||
| XR_935213.2:n.148G>A | ||
| NM_001318520.2:c.-2474G>A | NP_001305449.1:n.-2474G>A | |
| NM_173630.4:c.80G>A MANE Select | NP_775901.3:p.Cys27Tyr |