Linked Data
ClinVar Variation Id:
767100
dbSNP Id:
rs757688969
ExAC:
2:135872942 A / G
gnomAD v2:
2-135872942-A-G
gnomAD v3:
2-135115372-A-G
gnomAD v4:
2-135115372-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135115372A>G , CM000664.2:g.135115372A>G | GRCh38 |
| NC_000002.11:g.135872942A>G , CM000664.1:g.135872942A>G | GRCh37 |
| NC_000002.10:g.135589412A>G | NCBI36 |
| NG_016972.1:g.68108A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.639A>G | ENSP00000444306.2:p.Lys213= | |
| ENST00000685967.1:c.*105+2102A>G | ENSP00000508423.1:n.*105+2102A>G | |
| ENST00000686114.1:n.652A>G | ||
| ENST00000687199.1:c.*707A>G | ENSP00000510319.1:n.*707A>G | |
| ENST00000688088.1:n.658A>G | ||
| ENST00000688182.1:c.151-52321A>G | ENSP00000509324.1:n.151-52321A>G | |
| ENST00000689880.1:n.658A>G | ||
| ENST00000690208.1:c.*317A>G | ENSP00000510746.1:n.*317A>G | |
| ENST00000690785.1:n.658A>G | ||
| ENST00000691339.1:c.*262A>G | ENSP00000509953.1:n.*262A>G | |
| ENST00000691478.1:c.*738A>G | ENSP00000509081.1:n.*738A>G | |
| ENST00000693554.1:c.639A>G | ENSP00000509030.1:p.Lys213= | |
| ENST00000264158.13:c.639A>G MANE Select | ENSP00000264158.8:p.Lys213= | |
| ENST00000264158.12:c.639A>G | ENSP00000264158.7:p.Lys213= | |
| ENST00000442034.5:c.639A>G | ENSP00000411418.1:p.Lys213= | |
| ENST00000487003.5:n.708A>G | ||
| ENST00000539493.2:c.507A>G | ENSP00000444306.1:p.Lys169= | |
| NM_001172435.1:c.639A>G | NP_001165906.1:p.Lys213= | |
| NM_012233.2:c.639A>G | NP_036365.1:p.Lys213= | |
| XM_011510822.1:c.639A>G | XP_011509124.1:p.Lys213= | |
| XM_011510823.1:c.639A>G | XP_011509125.1:p.Lys213= | |
| XM_011510824.1:c.639A>G | XP_011509126.1:p.Lys213= | |
| XM_011510825.1:c.639A>G | XP_011509127.1:p.Lys213= | |
| XM_011510823.3:c.639A>G | XP_011509125.1:p.Lys213= | |
| XM_011510825.3:c.639A>G | XP_011509127.1:p.Lys213= | |
| XR_001738674.2:n.666A>G | ||
| NM_001172435.2:c.639A>G | NP_001165906.1:p.Lys213= | |
| NM_012233.3:c.639A>G MANE Select | NP_036365.1:p.Lys213= |