Linked Data
ClinVar Variation Id:
1160880
ClinVar RCV Id:
RCV001505178
dbSNP Id:
rs766170141
ExAC:
1:119964649 T / C
gnomAD v2:
1-119964649-T-C
gnomAD v4:
1-119422026-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422026T>C , CM000663.2:g.119422026T>C | GRCh38 |
| NC_000001.10:g.119964649T>C , CM000663.1:g.119964649T>C | GRCh37 |
| NC_000001.9:g.119766172T>C | NCBI36 |
| NG_013349.1:g.12096T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.525T>C MANE Select | ENSP00000358424.3:p.Asn175= | |
| ENST00000369416.3:c.525T>C | ENSP00000358424.3:p.Asn175= | |
| ENST00000433745.5:c.525T>C | ENSP00000388292.1:p.Asn175= | |
| ENST00000543831.5:c.525T>C | ENSP00000445122.1:p.Asn175= | |
| NM_000198.3:c.525T>C | NP_000189.1:p.Asn175= | |
| NM_001166120.1:c.525T>C | NP_001159592.1:p.Asn175= | |
| NM_000198.4:c.525T>C MANE Select | NP_000189.1:p.Asn175= | |
| NM_001166120.2:c.525T>C | NP_001159592.1:p.Asn175= |