Linked Data
ClinVar Variation Id:
742887
ClinVar RCV Id:
RCV000919195
dbSNP Id:
rs777594999
ExAC:
1:196964920 T / C
gnomAD v2:
1-196964920-T-C
gnomAD v3:
1-196995790-T-C
gnomAD v4:
1-196995790-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995790T>C , CM000663.2:g.196995790T>C | GRCh38 |
| NC_000001.10:g.196964920T>C , CM000663.1:g.196964920T>C | GRCh37 |
| NC_000001.9:g.195231543T>C | NCBI36 |
| NG_016365.1:g.23254T>C , LRG_227:g.23254T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.426T>C | ENSP00000514393.1:p.Tyr142= | |
| ENST00000699467.1:n.750T>C | ||
| ENST00000699468.1:c.-24-324T>C | ENSP00000514394.1:n.-24-324T>C | |
| ENST00000256785.5:c.681T>C MANE Select | ENSP00000256785.4:p.Tyr227= | |
| ENST00000256785.4:c.681T>C | ENSP00000256785.4:p.Tyr227= | |
| NM_030787.3:c.681T>C , LRG_227t1:c.681T>C | NP_110414.1:p.Tyr227= | |
| XM_011510020.1:c.690T>C | XP_011508322.1:p.Tyr230= | |
| XM_011510020.2:c.690T>C | XP_011508322.1:p.Tyr230= | |
| NM_030787.4:c.681T>C MANE Select | NP_110414.1:p.Tyr227= |