Linked Data
dbSNP Id:
rs758055313
ExAC:
1:196965222 T / C
gnomAD v2:
1-196965222-T-C
gnomAD v4:
1-196996092-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996092T>C , CM000663.2:g.196996092T>C | GRCh38 |
| NC_000001.10:g.196965222T>C , CM000663.1:g.196965222T>C | GRCh37 |
| NC_000001.9:g.195231845T>C | NCBI36 |
| NG_016365.1:g.23556T>C , LRG_227:g.23556T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.606T>C | ENSP00000514393.1:p.Tyr202= | |
| ENST00000699467.1:n.930T>C | ||
| ENST00000699468.1:c.-24-22T>C | ENSP00000514394.1:n.-24-22T>C | |
| ENST00000256785.5:c.861T>C MANE Select | ENSP00000256785.4:p.Tyr287= | |
| ENST00000256785.4:c.861T>C | ENSP00000256785.4:p.Tyr287= | |
| NM_030787.3:c.861T>C , LRG_227t1:c.861T>C | NP_110414.1:p.Tyr287= | |
| XM_011510020.1:c.870T>C | XP_011508322.1:p.Tyr290= | |
| XM_011510020.2:c.870T>C | XP_011508322.1:p.Tyr290= | |
| NM_030787.4:c.861T>C MANE Select | NP_110414.1:p.Tyr287= |