Linked Data
dbSNP Id:
rs2298566
ExAC:
11:130750642 A / C
gnomAD v2:
11-130750642-A-C
gnomAD v3:
11-130880747-A-C
gnomAD v4:
11-130880747-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880747A>C , CM000673.2:g.130880747A>C | GRCh38 |
| NC_000011.9:g.130750642A>C , CM000673.1:g.130750642A>C | GRCh37 |
| NC_000011.8:g.130255852A>C | NCBI36 |
| NG_053190.1:g.40742T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265909.9:c.2633T>G MANE Select | ENSP00000265909.4:p.Leu878Arg | |
| ENST00000265909.8:c.2633T>G | ENSP00000265909.4:p.Leu878Arg | |
| ENST00000426933.6:c.137T>G | ENSP00000413345.2:p.Leu46Arg | |
| ENST00000526579.5:n.178-1036T>G | ||
| ENST00000527116.5:n.395T>G | ||
| ENST00000528555.5:c.773T>G | ENSP00000435122.1:p.Leu258Arg | |
| ENST00000530330.1:n.369T>G | ||
| ENST00000530356.5:c.773T>G | ENSP00000432307.1:p.Leu258Arg | |
| ENST00000533318.5:n.993T>G | ||
| ENST00000534726.5:c.353T>G | ENSP00000433699.1:p.Leu118Arg | |
| NM_001301089.1:c.773T>G | NP_001288018.1:p.Leu258Arg | |
| NM_014758.2:c.2633T>G | NP_055573.2:p.Leu878Arg | |
| XM_005271546.3:c.2574-1036T>G | XP_005271603.1:n.2574-1036T>G | |
| XM_011542819.1:c.2879T>G | XP_011541121.1:p.Leu960Arg | |
| XM_011542820.1:c.2867T>G | XP_011541122.1:p.Leu956Arg | |
| XM_011542821.1:c.2759T>G | XP_011541123.1:p.Leu920Arg | |
| XM_011542824.1:c.1997T>G | XP_011541126.1:p.Leu666Arg | |
| XM_011542825.1:c.1154T>G | XP_011541127.1:p.Leu385Arg | |
| XM_011542826.1:c.1019T>G | XP_011541128.1:p.Leu340Arg | |
| XM_011542827.1:c.899T>G | XP_011541129.1:p.Leu300Arg | |
| NM_001347918.1:c.2513T>G | NP_001334847.1:p.Leu838Arg | |
| NM_001347919.1:c.2574-1036T>G | NP_001334848.1:n.2574-1036T>G | |
| NM_001347922.1:c.962T>G | NP_001334851.1:p.Leu321Arg | |
| NM_001347923.1:c.908T>G | NP_001334852.1:p.Leu303Arg | |
| NM_001347924.1:c.653T>G | NP_001334853.1:p.Leu218Arg | |
| NM_001347925.1:c.599T>G | NP_001334854.1:p.Leu200Arg | |
| NM_001347926.1:c.714-1036T>G | NP_001334855.1:n.714-1036T>G | |
| NM_001347927.1:c.353T>G | NP_001334856.1:p.Leu118Arg | |
| NR_144939.1:n.3266T>G | ||
| XM_011542820.2:c.2867T>G | XP_011541122.1:p.Leu956Arg | |
| XM_011542821.3:c.2759T>G | XP_011541123.1:p.Leu920Arg | |
| XM_011542824.2:c.1997T>G | XP_011541126.1:p.Leu666Arg | |
| XM_011542825.2:c.1154T>G | XP_011541127.1:p.Leu385Arg | |
| XM_011542826.2:c.1019T>G | XP_011541128.1:p.Leu340Arg | |
| XM_024448521.1:c.2879T>G | XP_024304289.1:p.Leu960Arg | |
| XR_001747870.1:n.3704T>G | ||
| XR_001747872.1:n.3050T>G | ||
| XR_001747873.1:n.3364T>G | ||
| NM_001301089.2:c.773T>G | NP_001288018.1:p.Leu258Arg | |
| NM_001347918.2:c.2513T>G | NP_001334847.2:p.Leu838Arg | |
| NM_001347919.2:c.2574-1036T>G | NP_001334848.2:n.2574-1036T>G | |
| NM_001347920.2:c.*21029T>G | NP_001334849.2:n.*21029T>G | |
| NM_001347922.2:c.962T>G | NP_001334851.2:p.Leu321Arg | |
| NM_001347923.2:c.908T>G | NP_001334852.2:p.Leu303Arg | |
| NM_001347924.2:c.653T>G | NP_001334853.1:p.Leu218Arg | |
| NM_001347925.2:c.599T>G | NP_001334854.1:p.Leu200Arg | |
| NM_001347926.2:c.714-1036T>G | NP_001334855.1:n.714-1036T>G | |
| NM_001347927.2:c.353T>G | NP_001334856.1:p.Leu118Arg | |
| NM_014758.3:c.2633T>G MANE Select | NP_055573.3:p.Leu878Arg | |
| NR_144939.2:n.3258T>G |