Linked Data
ClinVar Variation Id:
306191
dbSNP Id:
rs886048680
gnomAD v3:
11-77202344-G-T
gnomAD v4:
11-77202344-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77202344G>T , CM000673.2:g.77202344G>T | GRCh38 |
| NC_000011.9:g.76913389G>T , CM000673.1:g.76913389G>T | GRCh37 |
| NC_000011.8:g.76591037G>T | NCBI36 |
| NG_009086.1:g.79080G>T | |
| NG_009086.2:g.79099G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5088G>T MANE Select | ENSP00000386331.3:p.Arg1696= | |
| ENST00000670577.1:c.2929G>T | ||
| ENST00000409619.6:c.4941G>T | ENSP00000386635.2:p.Arg1647= | |
| ENST00000409709.7:c.5088G>T | ENSP00000386331.3:p.Arg1696= | |
| ENST00000458169.2:c.2514G>T | ENSP00000417017.2:p.Arg838= | |
| ENST00000458637.6:c.4974G>T | ENSP00000392185.2:p.Arg1658= | |
| ENST00000481328.7:n.2624G>T | ||
| NM_000260.3:c.5088G>T | NP_000251.3:p.Arg1696= | |
| NM_001127180.1:c.4974G>T | NP_001120652.1:p.Arg1658= | |
| XM_005274012.2:c.4971G>T | XP_005274069.1:p.Arg1657= | |
| XM_006718558.2:c.5079G>T | XP_006718621.1:p.Arg1693= | |
| XM_006718559.2:c.4974G>T | XP_006718622.1:p.Arg1658= | |
| XM_006718560.2:c.4971G>T | XP_006718623.1:p.Arg1657= | |
| XM_006718561.2:c.4974G>T | XP_006718624.1:p.Arg1658= | |
| XM_011545044.1:c.5088G>T | XP_011543346.1:p.Arg1696= | |
| XM_011545045.1:c.5082G>T | XP_011543347.1:p.Arg1694= | |
| XM_011545046.1:c.5055G>T | XP_011543348.1:p.Arg1685= | |
| XM_011545047.1:c.4992G>T | XP_011543349.1:p.Arg1664= | |
| XM_011545048.1:c.4863G>T | XP_011543350.1:p.Arg1621= | |
| XM_011545049.1:c.4851G>T | XP_011543351.1:p.Arg1617= | |
| XM_011545050.1:c.4824G>T | XP_011543352.1:p.Arg1608= | |
| XM_011545051.1:c.5088G>T | XP_011543353.1:p.Arg1696= | |
| XM_011545052.1:c.5088G>T | XP_011543354.1:p.Arg1696= | |
| XR_949938.1:n.5408G>T | ||
| XR_949941.1:n.5408G>T | ||
| XR_949942.1:n.5410G>T | ||
| XM_011545044.2:c.5088G>T | XP_011543346.1:p.Arg1696= | |
| XM_011545046.2:c.5178G>T | XP_011543348.2:p.Arg1726= | |
| XM_011545050.2:c.4824G>T | XP_011543352.1:p.Arg1608= | |
| XM_017017778.1:c.5172G>T | XP_016873267.1:p.Arg1724= | |
| XM_017017779.1:c.5169G>T | XP_016873268.1:p.Arg1723= | |
| XM_017017780.1:c.5178G>T | XP_016873269.1:p.Arg1726= | |
| XM_017017781.1:c.5082G>T | XP_016873270.1:p.Arg1694= | |
| XM_017017782.1:c.5064G>T | XP_016873271.1:p.Arg1688= | |
| XM_017017783.1:c.5061G>T | XP_016873272.1:p.Arg1687= | |
| XM_017017784.1:c.5061G>T | XP_016873273.1:p.Arg1687= | |
| XM_017017785.1:c.4941G>T | XP_016873274.1:p.Arg1647= | |
| XM_017017786.1:c.5178G>T | XP_016873275.1:p.Arg1726= | |
| XM_017017788.1:c.5064G>T | XP_016873277.1:p.Arg1688= | |
| XR_001747885.1:n.5193G>T | ||
| XR_001747886.1:n.5193G>T | ||
| XR_001747887.1:n.5193G>T | ||
| XR_001747888.1:n.5193G>T | ||
| NM_000260.4:c.5088G>T MANE Select | NP_000251.3:p.Arg1696= | |
| NM_001127180.2:c.4974G>T | NP_001120652.1:p.Arg1658= | |
| NM_001369365.1:c.4941G>T | NP_001356294.1:p.Arg1647= |