Linked Data
ClinVar Variation Id:
2057097
ClinVar RCV Id:
RCV002923179
dbSNP Id:
rs556126110
ExAC:
7:92163805 T / C
gnomAD v2:
7-92163805-T-C
gnomAD v3:
7-92534491-T-C
gnomAD v4:
7-92534491-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92534491T>C , CM000669.2:g.92534491T>C | GRCh38 |
| NC_000007.13:g.92163805T>C , CM000669.1:g.92163805T>C | GRCh37 |
| NC_000007.12:g.92001741T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265732.10:c.538T>C MANE Select | ENSP00000265732.5:p.Cys180Arg | |
| ENST00000265732.9:c.538T>C | ENSP00000265732.5:p.Cys180Arg | |
| ENST00000481551.5:c.538T>C | ENSP00000419242.1:p.Cys180Arg | |
| ENST00000617438.1:c.538T>C | ENSP00000478040.1:p.Cys180Arg | |
| NM_032120.2:c.538T>C | NP_115496.2:p.Cys180Arg | |
| XM_005250636.3:c.538T>C | XP_005250693.1:p.Cys180Arg | |
| XM_006716149.2:c.538T>C | XP_006716212.1:p.Cys180Arg | |
| XM_006716150.2:c.538T>C | XP_006716213.1:p.Cys180Arg | |
| XM_011516619.1:c.*177T>C | XP_011514921.1:n.*177T>C | |
| NM_001363366.1:c.538T>C | NP_001350295.1:p.Cys180Arg | |
| NM_001363367.1:c.13T>C | NP_001350296.1:p.Cys5Arg | |
| NM_032120.3:c.538T>C | NP_115496.2:p.Cys180Arg | |
| XM_005250636.5:c.538T>C | XP_005250693.1:p.Cys180Arg | |
| XM_006716149.4:c.538T>C | XP_006716212.1:p.Cys180Arg | |
| NM_032120.4:c.538T>C MANE Select | NP_115496.2:p.Cys180Arg |