Linked Data
dbSNP Id:
rs769982884
ExAC:
11:130750601 T / C
gnomAD v2:
11-130750601-T-C
gnomAD v4:
11-130880706-T-C
COSMIC:
COSM4019397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880706T>C , CM000673.2:g.130880706T>C | GRCh38 |
| NC_000011.9:g.130750601T>C , CM000673.1:g.130750601T>C | GRCh37 |
| NC_000011.8:g.130255811T>C | NCBI36 |
| NG_053190.1:g.40783A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.2674A>G MANE Select | ENSP00000265909.4:p.Lys892Glu | |
| ENST00000265909.8:c.2674A>G | ENSP00000265909.4:p.Lys892Glu | |
| ENST00000426933.6:c.178A>G | ENSP00000413345.2:p.Lys60Glu | |
| ENST00000526579.5:n.178-995A>G | ||
| ENST00000527116.5:n.436A>G | ||
| ENST00000528555.5:c.814A>G | ENSP00000435122.1:p.Lys272Glu | |
| ENST00000530330.1:n.410A>G | ||
| ENST00000530356.5:c.814A>G | ENSP00000432307.1:p.Lys272Glu | |
| ENST00000533318.5:n.1034A>G | ||
| ENST00000534726.5:c.394A>G | ENSP00000433699.1:p.Lys132Glu | |
| NM_001301089.1:c.814A>G | NP_001288018.1:p.Lys272Glu | |
| NM_014758.2:c.2674A>G | NP_055573.2:p.Lys892Glu | |
| XM_005271546.3:c.2574-995A>G | XP_005271603.1:n.2574-995A>G | |
| XM_011542819.1:c.2920A>G | XP_011541121.1:p.Lys974Glu | |
| XM_011542820.1:c.2908A>G | XP_011541122.1:p.Lys970Glu | |
| XM_011542821.1:c.2800A>G | XP_011541123.1:p.Lys934Glu | |
| XM_011542824.1:c.2038A>G | XP_011541126.1:p.Lys680Glu | |
| XM_011542825.1:c.1195A>G | XP_011541127.1:p.Lys399Glu | |
| XM_011542826.1:c.1060A>G | XP_011541128.1:p.Lys354Glu | |
| XM_011542827.1:c.940A>G | XP_011541129.1:p.Lys314Glu | |
| NM_001347918.1:c.2554A>G | NP_001334847.1:p.Lys852Glu | |
| NM_001347919.1:c.2574-995A>G | NP_001334848.1:n.2574-995A>G | |
| NM_001347922.1:c.1003A>G | NP_001334851.1:p.Lys335Glu | |
| NM_001347923.1:c.949A>G | NP_001334852.1:p.Lys317Glu | |
| NM_001347924.1:c.694A>G | NP_001334853.1:p.Lys232Glu | |
| NM_001347925.1:c.640A>G | NP_001334854.1:p.Lys214Glu | |
| NM_001347926.1:c.714-995A>G | NP_001334855.1:n.714-995A>G | |
| NM_001347927.1:c.394A>G | NP_001334856.1:p.Lys132Glu | |
| NR_144939.1:n.3307A>G | ||
| XM_011542820.2:c.2908A>G | XP_011541122.1:p.Lys970Glu | |
| XM_011542821.3:c.2800A>G | XP_011541123.1:p.Lys934Glu | |
| XM_011542824.2:c.2038A>G | XP_011541126.1:p.Lys680Glu | |
| XM_011542825.2:c.1195A>G | XP_011541127.1:p.Lys399Glu | |
| XM_011542826.2:c.1060A>G | XP_011541128.1:p.Lys354Glu | |
| XM_024448521.1:c.2920A>G | XP_024304289.1:p.Lys974Glu | |
| XR_001747870.1:n.3745A>G | ||
| XR_001747872.1:n.3091A>G | ||
| XR_001747873.1:n.3405A>G | ||
| NM_001301089.2:c.814A>G | NP_001288018.1:p.Lys272Glu | |
| NM_001347918.2:c.2554A>G | NP_001334847.2:p.Lys852Glu | |
| NM_001347919.2:c.2574-995A>G | NP_001334848.2:n.2574-995A>G | |
| NM_001347920.2:c.*21070A>G | NP_001334849.2:n.*21070A>G | |
| NM_001347922.2:c.1003A>G | NP_001334851.2:p.Lys335Glu | |
| NM_001347923.2:c.949A>G | NP_001334852.2:p.Lys317Glu | |
| NM_001347924.2:c.694A>G | NP_001334853.1:p.Lys232Glu | |
| NM_001347925.2:c.640A>G | NP_001334854.1:p.Lys214Glu | |
| NM_001347926.2:c.714-995A>G | NP_001334855.1:n.714-995A>G | |
| NM_001347927.2:c.394A>G | NP_001334856.1:p.Lys132Glu | |
| NM_014758.3:c.2674A>G MANE Select | NP_055573.3:p.Lys892Glu | |
| NR_144939.2:n.3299A>G |