Linked Data
dbSNP Id:
rs769381970
ExAC:
1:210977455 A / C
gnomAD v2:
1-210977455-A-C
gnomAD v4:
1-210804113-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210804113A>C , CM000663.2:g.210804113A>C | GRCh38 |
| NC_000001.10:g.210977455A>C , CM000663.1:g.210977455A>C | GRCh37 |
| NC_000001.9:g.209044078A>C | NCBI36 |
| NG_029777.1:g.335003T>G | |
| NG_029777.2:g.335003T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.1516T>G MANE Select | ENSP00000271751.4:p.Tyr506Asp | |
| ENST00000367007.5:c.1435T>G | ENSP00000355974.5:p.Tyr479Asp | |
| ENST00000638357.1:c.849T>G | ||
| ENST00000638498.1:c.1516T>G | ENSP00000490983.1:p.Tyr506Asp | |
| ENST00000638960.1:c.1435T>G | ENSP00000492302.1:p.Tyr479Asp | |
| ENST00000639952.1:c.1435T>G | ENSP00000492697.1:p.Tyr479Asp | |
| ENST00000640044.1:c.364T>G | ENSP00000491434.1:p.Tyr122Asp | |
| ENST00000640243.1:c.*21T>G | ENSP00000492803.1:n.*21T>G | |
| ENST00000640522.1:c.*21T>G | ENSP00000491019.1:n.*21T>G | |
| ENST00000640528.1:c.1435T>G | ENSP00000491725.1:p.Tyr479Asp | |
| ENST00000640566.1:c.311-28569T>G | ENSP00000491302.1:n.311-28569T>G | |
| ENST00000640710.1:c.1435T>G | ENSP00000492513.1:p.Tyr479Asp | |
| ENST00000271751.8:c.1516T>G | ENSP00000271751.4:p.Tyr506Asp | |
| ENST00000367007.4:c.1435T>G | ENSP00000355974.4:p.Tyr479Asp | |
| NM_002238.3:c.1435T>G | NP_002229.1:p.Tyr479Asp | |
| NM_172362.2:c.1516T>G | NP_758872.1:p.Tyr506Asp | |
| XM_011509514.1:c.340T>G | XP_011507816.1:p.Tyr114Asp | |
| XM_017001246.1:c.340T>G | XP_016856735.1:p.Tyr114Asp | |
| NM_172362.3:c.1516T>G MANE Select | NP_758872.1:p.Tyr506Asp | |
| NM_002238.4:c.1435T>G | NP_002229.1:p.Tyr479Asp |