Linked Data
dbSNP Id:
rs147010503
ExAC:
11:130750661 G / A
gnomAD v2:
11-130750661-G-A
gnomAD v3:
11-130880766-G-A
gnomAD v4:
11-130880766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880766G>A , CM000673.2:g.130880766G>A | GRCh38 |
| NC_000011.9:g.130750661G>A , CM000673.1:g.130750661G>A | GRCh37 |
| NC_000011.8:g.130255871G>A | NCBI36 |
| NG_053190.1:g.40723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.2614C>T MANE Select | ENSP00000265909.4:p.Arg872Cys | |
| ENST00000265909.8:c.2614C>T | ENSP00000265909.4:p.Arg872Cys | |
| ENST00000426933.6:c.118C>T | ENSP00000413345.2:p.Arg40Cys | |
| ENST00000526579.5:n.178-1055C>T | ||
| ENST00000527116.5:n.376C>T | ||
| ENST00000528555.5:c.754C>T | ENSP00000435122.1:p.Arg252Cys | |
| ENST00000530330.1:n.350C>T | ||
| ENST00000530356.5:c.754C>T | ENSP00000432307.1:p.Arg252Cys | |
| ENST00000533318.5:n.974C>T | ||
| ENST00000534726.5:c.334C>T | ENSP00000433699.1:p.Arg112Cys | |
| NM_001301089.1:c.754C>T | NP_001288018.1:p.Arg252Cys | |
| NM_014758.2:c.2614C>T | NP_055573.2:p.Arg872Cys | |
| XM_005271546.3:c.2574-1055C>T | XP_005271603.1:n.2574-1055C>T | |
| XM_011542819.1:c.2860C>T | XP_011541121.1:p.Arg954Cys | |
| XM_011542820.1:c.2848C>T | XP_011541122.1:p.Arg950Cys | |
| XM_011542821.1:c.2740C>T | XP_011541123.1:p.Arg914Cys | |
| XM_011542824.1:c.1978C>T | XP_011541126.1:p.Arg660Cys | |
| XM_011542825.1:c.1135C>T | XP_011541127.1:p.Arg379Cys | |
| XM_011542826.1:c.1000C>T | XP_011541128.1:p.Arg334Cys | |
| XM_011542827.1:c.880C>T | XP_011541129.1:p.Arg294Cys | |
| NM_001347918.1:c.2494C>T | NP_001334847.1:p.Arg832Cys | |
| NM_001347919.1:c.2574-1055C>T | NP_001334848.1:n.2574-1055C>T | |
| NM_001347922.1:c.943C>T | NP_001334851.1:p.Arg315Cys | |
| NM_001347923.1:c.889C>T | NP_001334852.1:p.Arg297Cys | |
| NM_001347924.1:c.634C>T | NP_001334853.1:p.Arg212Cys | |
| NM_001347925.1:c.580C>T | NP_001334854.1:p.Arg194Cys | |
| NM_001347926.1:c.714-1055C>T | NP_001334855.1:n.714-1055C>T | |
| NM_001347927.1:c.334C>T | NP_001334856.1:p.Arg112Cys | |
| NR_144939.1:n.3247C>T | ||
| XM_011542820.2:c.2848C>T | XP_011541122.1:p.Arg950Cys | |
| XM_011542821.3:c.2740C>T | XP_011541123.1:p.Arg914Cys | |
| XM_011542824.2:c.1978C>T | XP_011541126.1:p.Arg660Cys | |
| XM_011542825.2:c.1135C>T | XP_011541127.1:p.Arg379Cys | |
| XM_011542826.2:c.1000C>T | XP_011541128.1:p.Arg334Cys | |
| XM_024448521.1:c.2860C>T | XP_024304289.1:p.Arg954Cys | |
| XR_001747870.1:n.3685C>T | ||
| XR_001747872.1:n.3031C>T | ||
| XR_001747873.1:n.3345C>T | ||
| NM_001301089.2:c.754C>T | NP_001288018.1:p.Arg252Cys | |
| NM_001347918.2:c.2494C>T | NP_001334847.2:p.Arg832Cys | |
| NM_001347919.2:c.2574-1055C>T | NP_001334848.2:n.2574-1055C>T | |
| NM_001347920.2:c.*21010C>T | NP_001334849.2:n.*21010C>T | |
| NM_001347922.2:c.943C>T | NP_001334851.2:p.Arg315Cys | |
| NM_001347923.2:c.889C>T | NP_001334852.2:p.Arg297Cys | |
| NM_001347924.2:c.634C>T | NP_001334853.1:p.Arg212Cys | |
| NM_001347925.2:c.580C>T | NP_001334854.1:p.Arg194Cys | |
| NM_001347926.2:c.714-1055C>T | NP_001334855.1:n.714-1055C>T | |
| NM_001347927.2:c.334C>T | NP_001334856.1:p.Arg112Cys | |
| NM_014758.3:c.2614C>T MANE Select | NP_055573.3:p.Arg872Cys | |
| NR_144939.2:n.3239C>T |