Linked Data
ClinVar Variation Id:
4750
dbSNP Id:
rs121908329
ExAC:
17:76120752 G / T
gnomAD v2:
17-76120752-G-T
gnomAD v3:
17-78124671-G-T
gnomAD v4:
17-78124671-G-T
PubMed:
PMID:15042430
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78124671G>T , CM000679.2:g.78124671G>T | GRCh38 |
| NC_000017.10:g.76120752G>T , CM000679.1:g.76120752G>T | GRCh37 |
| NC_000017.9:g.73632347G>T | NCBI36 |
| NG_007879.1:g.12737C>A , LRG_118:g.12737C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589271.6:c.744C>A | ENSP00000468255.2:p.Tyr248Ter | |
| ENST00000592063.6:c.744C>A | ENSP00000466885.2:p.Tyr248Ter | |
| ENST00000698546.1:c.*566C>A | ENSP00000513789.1:n.*566C>A | |
| ENST00000698547.1:c.*62C>A | ENSP00000513790.1:n.*62C>A | |
| ENST00000698548.1:c.744C>A | ENSP00000513791.1:p.Tyr248Ter | |
| ENST00000698549.1:c.*566C>A | ENSP00000513792.1:n.*566C>A | |
| ENST00000698550.1:c.744C>A | ENSP00000513793.1:p.Tyr248Ter | |
| ENST00000698551.1:c.744C>A | ENSP00000513794.1:p.Tyr248Ter | |
| ENST00000590602.6:c.744C>A MANE Select | ENSP00000465261.1:p.Tyr248Ter | |
| ENST00000306591.11:c.744C>A | ENSP00000306405.6:p.Tyr248Ter | |
| ENST00000322914.7:c.744C>A | ENSP00000313408.2:p.Tyr248Ter | |
| ENST00000392467.7:c.744C>A | ENSP00000376260.2:p.Tyr248Ter | |
| ENST00000586271.1:n.478C>A | ||
| ENST00000588087.5:n.937C>A | ||
| ENST00000589271.5:c.744C>A | ENSP00000468255.1:p.Tyr248Ter | |
| ENST00000589553.5:c.63C>A | ENSP00000465359.1:p.Tyr21Ter | |
| ENST00000590602.5:c.744C>A | ENSP00000465261.1:p.Tyr248Ter | |
| ENST00000593044.5:n.1324C>A | ||
| NM_001127198.1:c.744C>A | NP_001120670.1:p.Tyr248Ter | |
| NM_007267.6:c.744C>A , LRG_118t1:c.744C>A | NP_009198.4:p.Tyr248Ter | |
| XM_005256995.1:c.744C>A | XP_005257052.1:p.Tyr248Ter | |
| XM_005256996.1:c.744C>A | XP_005257053.1:p.Tyr248Ter | |
| XM_005256997.1:c.744C>A | XP_005257054.1:p.Tyr248Ter | |
| XM_005256998.1:c.63C>A | XP_005257055.1:p.Tyr21Ter | |
| XM_011524255.1:c.744C>A | XP_011522557.1:p.Tyr248Ter | |
| XM_011524256.1:c.634-16C>A | XP_011522558.1:n.634-16C>A | |
| XM_011524257.1:c.-51-16C>A | XP_011522559.1:n.-51-16C>A | |
| XM_011524258.1:c.744C>A | XP_011522560.1:p.Tyr248Ter | |
| XR_243632.1:n.932C>A | ||
| NM_001127198.2:c.744C>A | NP_001120670.1:p.Tyr248Ter | |
| NM_001321185.1:c.744C>A | NP_001308114.1:p.Tyr248Ter | |
| NM_007267.7:c.744C>A | NP_009198.4:p.Tyr248Ter | |
| XM_011524257.3:c.-51-16C>A | XP_011522559.1:n.-51-16C>A | |
| XM_017024107.1:c.744C>A | XP_016879596.1:p.Tyr248Ter | |
| XM_017024108.1:c.744C>A | XP_016879597.1:p.Tyr248Ter | |
| XM_024450555.1:c.744C>A | XP_024306323.1:p.Tyr248Ter | |
| XM_024450556.1:c.744C>A | XP_024306324.1:p.Tyr248Ter | |
| XM_024450557.1:c.63C>A | XP_024306325.1:p.Tyr21Ter | |
| XR_001752420.1:n.932C>A | ||
| NM_001127198.5:c.744C>A MANE Select | NP_001120670.1:p.Tyr248Ter | |
| NM_001374593.1:c.744C>A | NP_001361522.1:p.Tyr248Ter | |
| NM_001374594.1:c.744C>A | NP_001361523.1:p.Tyr248Ter | |
| NM_001375353.1:c.744C>A | NP_001362282.1:p.Tyr248Ter | |
| NM_001375354.1:c.744C>A | NP_001362283.1:p.Tyr248Ter | |
| NM_001374596.1:c.744C>A | NP_001361525.1:p.Tyr248Ter | |
| NR_168288.1:n.962C>A | ||
| NR_168289.1:n.962C>A | ||
| NR_168290.1:n.865C>A | ||
| NR_168291.1:n.915C>A |