Linked Data
ClinVar Variation Id:
392448
dbSNP Id:
rs750105086
ExAC:
1:154558658 C / T
gnomAD v2:
1-154558658-C-T
gnomAD v3:
1-154586182-C-T
gnomAD v4:
1-154586182-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154586182C>T , CM000663.2:g.154586182C>T | GRCh38 |
| NC_000001.10:g.154558658C>T , CM000663.1:g.154558658C>T | GRCh37 |
| NC_000001.9:g.152825282C>T | NCBI36 |
| NG_011844.1:g.46780G>A | |
| NG_011844.2:g.50379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.3095G>A | ENSP00000497790.2:n.3095G>A | |
| ENST00000649724.2:c.3231G>A | ENSP00000497932.2:p.Leu1077= | |
| ENST00000680270.2:c.3084G>A | ENSP00000505532.2:p.Leu1028= | |
| ENST00000681056.2:c.2853G>A | ENSP00000506234.2:p.Leu951= | |
| ENST00000368471.8:c.2316G>A | ENSP00000357456.3:p.Leu772= | |
| ENST00000368474.9:c.3201G>A MANE Select | ENSP00000357459.4:p.Leu1067= | |
| ENST00000492630.2:n.1586G>A | ||
| ENST00000529168.2:c.3123G>A | ENSP00000431794.2:p.Leu1041= | |
| ENST00000647682.2:n.3186G>A | ||
| ENST00000648231.2:c.2316G>A | ENSP00000497555.1:p.Leu772= | |
| ENST00000648311.1:c.2316G>A | ENSP00000498137.1:p.Leu772= | |
| ENST00000648714.2:c.*676G>A | ENSP00000497434.2:n.*676G>A | |
| ENST00000649021.1:n.3529G>A | ||
| ENST00000649022.2:c.2316G>A | ENSP00000496896.2:p.Leu772= | |
| ENST00000649042.1:c.2316G>A | ENSP00000497790.1:p.Leu772= | |
| ENST00000649408.2:c.*367G>A | ENSP00000497386.2:n.*367G>A | |
| ENST00000649724.1:c.2316G>A | ENSP00000497932.1:p.Leu772= | |
| ENST00000649749.1:c.2316G>A | ENSP00000497210.1:p.Leu772= | |
| ENST00000679375.1:c.*1433G>A | ENSP00000505887.1:n.*1433G>A | |
| ENST00000679465.1:n.3654G>A | ||
| ENST00000679805.1:n.3529G>A | ||
| ENST00000679899.1:c.2259G>A | ENSP00000505996.1:p.Leu753= | |
| ENST00000680270.1:c.2316G>A | ENSP00000505532.1:p.Leu772= | |
| ENST00000680305.1:c.3020-317G>A | ENSP00000506312.1:n.3020-317G>A | |
| ENST00000681056.1:c.2316G>A | ENSP00000506234.1:p.Leu772= | |
| ENST00000681235.1:c.*2723G>A | ENSP00000506606.1:n.*2723G>A | |
| ENST00000681429.1:n.2461G>A | ||
| ENST00000681683.1:c.2316G>A | ENSP00000506666.1:p.Leu772= | |
| ENST00000681786.1:n.3654G>A | ||
| ENST00000681901.1:c.*2801G>A | ENSP00000504883.1:n.*2801G>A | |
| ENST00000368471.7:c.2316G>A | ENSP00000357456.3:p.Leu772= | |
| ENST00000368474.8:c.3201G>A | ENSP00000357459.4:p.Leu1067= | |
| ENST00000529168.1:c.3108G>A | ENSP00000431794.1:p.Leu1036= | |
| ENST00000530954.1:n.338G>A | ||
| ENST00000534279.1:n.660G>A | ||
| NM_001025107.2:c.2316G>A | NP_001020278.1:p.Leu772= | |
| NM_001111.4:c.3201G>A | NP_001102.2:p.Leu1067= | |
| NM_001193495.1:c.2316G>A | NP_001180424.1:p.Leu772= | |
| NM_015840.3:c.3123G>A | NP_056655.2:p.Leu1041= | |
| NM_015841.3:c.3066G>A | NP_056656.2:p.Leu1022= | |
| XM_006711109.1:c.3231G>A | XP_006711172.1:p.Leu1077= | |
| XM_006711111.2:c.2316G>A | XP_006711174.1:p.Leu772= | |
| XM_006711112.1:c.2316G>A | XP_006711175.1:p.Leu772= | |
| XM_006711113.1:c.2316G>A | XP_006711176.1:p.Leu772= | |
| XM_011509060.1:c.3330G>A | XP_011507362.1:p.Leu1110= | |
| XM_011509061.1:c.3252G>A | XP_011507363.1:p.Leu1084= | |
| XM_011509062.1:c.3219G>A | XP_011507364.1:p.Leu1073= | |
| NM_001025107.3:c.2316G>A | NP_001020278.1:p.Leu772= | |
| NM_001111.5:c.3201G>A MANE Select | NP_001102.3:p.Leu1067= | |
| NM_001193495.2:c.2316G>A | NP_001180424.1:p.Leu772= | |
| NM_001365045.1:c.3228G>A | NP_001351974.1:p.Leu1076= | |
| NM_001365046.1:c.2316G>A | NP_001351975.1:p.Leu772= | |
| NM_001365047.1:c.2316G>A | NP_001351976.1:p.Leu772= | |
| NM_001365048.1:c.2316G>A | NP_001351977.1:p.Leu772= | |
| NM_001365049.1:c.2238G>A | NP_001351978.1:p.Leu746= | |
| NM_015840.4:c.3123G>A | NP_056655.3:p.Leu1041= | |
| NM_015841.4:c.3066G>A | NP_056656.3:p.Leu1022= | |
| XM_006711113.2:c.2316G>A | XP_006711176.1:p.Leu772= | |
| XM_011509061.2:c.2238G>A | XP_011507363.2:p.Leu746= | |
| XM_024449674.1:c.3330G>A | XP_024305442.1:p.Leu1110= |