Linked Data
dbSNP Id:
rs752352105
ExAC:
11:130750536 G / C
gnomAD v2:
11-130750536-G-C
gnomAD v3:
11-130880641-G-C
gnomAD v4:
11-130880641-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880641G>C , CM000673.2:g.130880641G>C | GRCh38 |
| NC_000011.9:g.130750536G>C , CM000673.1:g.130750536G>C | GRCh37 |
| NC_000011.8:g.130255746G>C | NCBI36 |
| NG_053190.1:g.40848C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.2739C>G MANE Select | ENSP00000265909.4:p.Ser913Arg | |
| ENST00000265909.8:c.2739C>G | ENSP00000265909.4:p.Ser913Arg | |
| ENST00000426933.6:c.243C>G | ENSP00000413345.2:p.Ser81Arg | |
| ENST00000526579.5:n.178-930C>G | ||
| ENST00000527116.5:n.501C>G | ||
| ENST00000528555.5:c.879C>G | ENSP00000435122.1:p.Ser293Arg | |
| ENST00000530330.1:n.475C>G | ||
| ENST00000530356.5:c.879C>G | ENSP00000432307.1:p.Ser293Arg | |
| ENST00000533318.5:n.1099C>G | ||
| ENST00000534726.5:c.459C>G | ENSP00000433699.1:p.Ser153Arg | |
| NM_001301089.1:c.879C>G | NP_001288018.1:p.Ser293Arg | |
| NM_014758.2:c.2739C>G | NP_055573.2:p.Ser913Arg | |
| XM_005271546.3:c.2574-930C>G | XP_005271603.1:n.2574-930C>G | |
| XM_011542819.1:c.2985C>G | XP_011541121.1:p.Ser995Arg | |
| XM_011542820.1:c.2973C>G | XP_011541122.1:p.Ser991Arg | |
| XM_011542821.1:c.2865C>G | XP_011541123.1:p.Ser955Arg | |
| XM_011542824.1:c.2103C>G | XP_011541126.1:p.Ser701Arg | |
| XM_011542825.1:c.1260C>G | XP_011541127.1:p.Ser420Arg | |
| XM_011542826.1:c.1125C>G | XP_011541128.1:p.Ser375Arg | |
| XM_011542827.1:c.1005C>G | XP_011541129.1:p.Ser335Arg | |
| NM_001347918.1:c.2619C>G | NP_001334847.1:p.Ser873Arg | |
| NM_001347919.1:c.2574-930C>G | NP_001334848.1:n.2574-930C>G | |
| NM_001347922.1:c.1068C>G | NP_001334851.1:p.Ser356Arg | |
| NM_001347923.1:c.1014C>G | NP_001334852.1:p.Ser338Arg | |
| NM_001347924.1:c.759C>G | NP_001334853.1:p.Ser253Arg | |
| NM_001347925.1:c.705C>G | NP_001334854.1:p.Ser235Arg | |
| NM_001347926.1:c.714-930C>G | NP_001334855.1:n.714-930C>G | |
| NM_001347927.1:c.459C>G | NP_001334856.1:p.Ser153Arg | |
| NR_144939.1:n.3372C>G | ||
| XM_011542820.2:c.2973C>G | XP_011541122.1:p.Ser991Arg | |
| XM_011542821.3:c.2865C>G | XP_011541123.1:p.Ser955Arg | |
| XM_011542824.2:c.2103C>G | XP_011541126.1:p.Ser701Arg | |
| XM_011542825.2:c.1260C>G | XP_011541127.1:p.Ser420Arg | |
| XM_011542826.2:c.1125C>G | XP_011541128.1:p.Ser375Arg | |
| XM_024448521.1:c.2985C>G | XP_024304289.1:p.Ser995Arg | |
| XR_001747870.1:n.3810C>G | ||
| XR_001747872.1:n.3156C>G | ||
| XR_001747873.1:n.3470C>G | ||
| NM_001301089.2:c.879C>G | NP_001288018.1:p.Ser293Arg | |
| NM_001347918.2:c.2619C>G | NP_001334847.2:p.Ser873Arg | |
| NM_001347919.2:c.2574-930C>G | NP_001334848.2:n.2574-930C>G | |
| NM_001347920.2:c.*21135C>G | NP_001334849.2:n.*21135C>G | |
| NM_001347922.2:c.1068C>G | NP_001334851.2:p.Ser356Arg | |
| NM_001347923.2:c.1014C>G | NP_001334852.2:p.Ser338Arg | |
| NM_001347924.2:c.759C>G | NP_001334853.1:p.Ser253Arg | |
| NM_001347925.2:c.705C>G | NP_001334854.1:p.Ser235Arg | |
| NM_001347926.2:c.714-930C>G | NP_001334855.1:n.714-930C>G | |
| NM_001347927.2:c.459C>G | NP_001334856.1:p.Ser153Arg | |
| NM_014758.3:c.2739C>G MANE Select | NP_055573.3:p.Ser913Arg | |
| NR_144939.2:n.3364C>G |