Linked Data
dbSNP Id:
rs776812981
ExAC:
2:135893137 T / C
gnomAD v2:
2-135893137-T-C
gnomAD v3:
2-135135567-T-C
gnomAD v4:
2-135135567-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135135567T>C , CM000664.2:g.135135567T>C | GRCh38 |
| NC_000002.11:g.135893137T>C , CM000664.1:g.135893137T>C | GRCh37 |
| NC_000002.10:g.135609607T>C | NCBI36 |
| NG_016972.1:g.88303T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.1558T>C | ENSP00000444306.2:p.Leu520= | |
| ENST00000685967.1:c.*1015T>C | ENSP00000508423.1:n.*1015T>C | |
| ENST00000686114.1:n.1904T>C | ||
| ENST00000687199.1:c.*1626T>C | ENSP00000510319.1:n.*1626T>C | |
| ENST00000688088.1:n.1577T>C | ||
| ENST00000688182.1:c.151-32126T>C | ENSP00000509324.1:n.151-32126T>C | |
| ENST00000689880.1:n.1577T>C | ||
| ENST00000690208.1:c.*1236T>C | ENSP00000510746.1:n.*1236T>C | |
| ENST00000690785.1:n.1577T>C | ||
| ENST00000691339.1:c.*1181T>C | ENSP00000509953.1:n.*1181T>C | |
| ENST00000691478.1:c.*1657T>C | ENSP00000509081.1:n.*1657T>C | |
| ENST00000693554.1:c.1558T>C | ENSP00000509030.1:p.Leu520= | |
| ENST00000264158.13:c.1558T>C MANE Select | ENSP00000264158.8:p.Leu520= | |
| ENST00000264158.12:c.1558T>C | ENSP00000264158.7:p.Leu520= | |
| ENST00000442034.5:c.1558T>C | ENSP00000411418.1:p.Leu520= | |
| ENST00000487003.5:n.1627T>C | ||
| ENST00000539493.2:c.1426T>C | ENSP00000444306.1:p.Leu476= | |
| NM_001172435.1:c.1558T>C | NP_001165906.1:p.Leu520= | |
| NM_012233.2:c.1558T>C | NP_036365.1:p.Leu520= | |
| XM_011510822.1:c.1558T>C | XP_011509124.1:p.Leu520= | |
| XM_011510823.1:c.1558T>C | XP_011509125.1:p.Leu520= | |
| XM_011510824.1:c.1558T>C | XP_011509126.1:p.Leu520= | |
| XM_011510825.1:c.1558T>C | XP_011509127.1:p.Leu520= | |
| XM_011510823.3:c.1558T>C | XP_011509125.1:p.Leu520= | |
| XM_011510825.3:c.1558T>C | XP_011509127.1:p.Leu520= | |
| XR_001738674.2:n.1585T>C | ||
| NM_001172435.2:c.1558T>C | NP_001165906.1:p.Leu520= | |
| NM_012233.3:c.1558T>C MANE Select | NP_036365.1:p.Leu520= |