Linked Data
dbSNP Id:
rs111719574
ExAC:
11:130750660 C / A
gnomAD v2:
11-130750660-C-A
gnomAD v3:
11-130880765-C-A
gnomAD v4:
11-130880765-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130880765C>A , CM000673.2:g.130880765C>A | GRCh38 |
| NC_000011.9:g.130750660C>A , CM000673.1:g.130750660C>A | GRCh37 |
| NC_000011.8:g.130255870C>A | NCBI36 |
| NG_053190.1:g.40724G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265909.9:c.2615G>T MANE Select | ENSP00000265909.4:p.Arg872Leu | |
| ENST00000265909.8:c.2615G>T | ENSP00000265909.4:p.Arg872Leu | |
| ENST00000426933.6:c.119G>T | ENSP00000413345.2:p.Arg40Leu | |
| ENST00000526579.5:n.178-1054G>T | ||
| ENST00000527116.5:n.377G>T | ||
| ENST00000528555.5:c.755G>T | ENSP00000435122.1:p.Arg252Leu | |
| ENST00000530330.1:n.351G>T | ||
| ENST00000530356.5:c.755G>T | ENSP00000432307.1:p.Arg252Leu | |
| ENST00000533318.5:n.975G>T | ||
| ENST00000534726.5:c.335G>T | ENSP00000433699.1:p.Arg112Leu | |
| NM_001301089.1:c.755G>T | NP_001288018.1:p.Arg252Leu | |
| NM_014758.2:c.2615G>T | NP_055573.2:p.Arg872Leu | |
| XM_005271546.3:c.2574-1054G>T | XP_005271603.1:n.2574-1054G>T | |
| XM_011542819.1:c.2861G>T | XP_011541121.1:p.Arg954Leu | |
| XM_011542820.1:c.2849G>T | XP_011541122.1:p.Arg950Leu | |
| XM_011542821.1:c.2741G>T | XP_011541123.1:p.Arg914Leu | |
| XM_011542824.1:c.1979G>T | XP_011541126.1:p.Arg660Leu | |
| XM_011542825.1:c.1136G>T | XP_011541127.1:p.Arg379Leu | |
| XM_011542826.1:c.1001G>T | XP_011541128.1:p.Arg334Leu | |
| XM_011542827.1:c.881G>T | XP_011541129.1:p.Arg294Leu | |
| NM_001347918.1:c.2495G>T | NP_001334847.1:p.Arg832Leu | |
| NM_001347919.1:c.2574-1054G>T | NP_001334848.1:n.2574-1054G>T | |
| NM_001347922.1:c.944G>T | NP_001334851.1:p.Arg315Leu | |
| NM_001347923.1:c.890G>T | NP_001334852.1:p.Arg297Leu | |
| NM_001347924.1:c.635G>T | NP_001334853.1:p.Arg212Leu | |
| NM_001347925.1:c.581G>T | NP_001334854.1:p.Arg194Leu | |
| NM_001347926.1:c.714-1054G>T | NP_001334855.1:n.714-1054G>T | |
| NM_001347927.1:c.335G>T | NP_001334856.1:p.Arg112Leu | |
| NR_144939.1:n.3248G>T | ||
| XM_011542820.2:c.2849G>T | XP_011541122.1:p.Arg950Leu | |
| XM_011542821.3:c.2741G>T | XP_011541123.1:p.Arg914Leu | |
| XM_011542824.2:c.1979G>T | XP_011541126.1:p.Arg660Leu | |
| XM_011542825.2:c.1136G>T | XP_011541127.1:p.Arg379Leu | |
| XM_011542826.2:c.1001G>T | XP_011541128.1:p.Arg334Leu | |
| XM_024448521.1:c.2861G>T | XP_024304289.1:p.Arg954Leu | |
| XR_001747870.1:n.3686G>T | ||
| XR_001747872.1:n.3032G>T | ||
| XR_001747873.1:n.3346G>T | ||
| NM_001301089.2:c.755G>T | NP_001288018.1:p.Arg252Leu | |
| NM_001347918.2:c.2495G>T | NP_001334847.2:p.Arg832Leu | |
| NM_001347919.2:c.2574-1054G>T | NP_001334848.2:n.2574-1054G>T | |
| NM_001347920.2:c.*21011G>T | NP_001334849.2:n.*21011G>T | |
| NM_001347922.2:c.944G>T | NP_001334851.2:p.Arg315Leu | |
| NM_001347923.2:c.890G>T | NP_001334852.2:p.Arg297Leu | |
| NM_001347924.2:c.635G>T | NP_001334853.1:p.Arg212Leu | |
| NM_001347925.2:c.581G>T | NP_001334854.1:p.Arg194Leu | |
| NM_001347926.2:c.714-1054G>T | NP_001334855.1:n.714-1054G>T | |
| NM_001347927.2:c.335G>T | NP_001334856.1:p.Arg112Leu | |
| NM_014758.3:c.2615G>T MANE Select | NP_055573.3:p.Arg872Leu | |
| NR_144939.2:n.3240G>T |