Linked Data
ClinVar Variation Id:
458800
dbSNP Id:
rs61746139
ExAC:
2:47184066 G / T
gnomAD v2:
2-47184066-G-T
gnomAD v3:
2-46956927-G-T
gnomAD v4:
2-46956927-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46956927G>T , CM000664.2:g.46956927G>T | GRCh38 |
| NC_000002.11:g.47184066G>T , CM000664.1:g.47184066G>T | GRCh37 |
| NC_000002.10:g.47037570G>T | NCBI36 |
| NG_034143.1:g.45799G>T | |
| NG_034143.2:g.45799G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.1384G>T | ||
| ENST00000319190.11:c.437G>T MANE Select | ENSP00000316699.5:p.Arg146Leu | |
| ENST00000319190.9:c.437G>T | ENSP00000316699.5:p.Arg146Leu | |
| ENST00000394850.6:c.437G>T | ENSP00000378320.2:p.Arg146Leu | |
| ENST00000409245.5:c.335G>T | ENSP00000386307.1:p.Arg112Leu | |
| ENST00000409825.5:c.327G>T | ||
| ENST00000441914.5:c.436G>T | ||
| ENST00000461601.5:n.704G>T | ||
| NM_001288951.1:c.437G>T | NP_001275880.1:p.Arg146Leu | |
| NM_001288953.1:c.335G>T | NP_001275882.1:p.Arg112Leu | |
| NM_001288955.1:c.-468G>T | NP_001275884.1:n.-468G>T | |
| NM_020458.3:c.437G>T | NP_065191.2:p.Arg146Leu | |
| XM_005264439.2:c.22G>T | XP_005264496.1:p.Gly8Trp | |
| XM_011532998.1:c.22G>T | XP_011531300.1:p.Gly8Trp | |
| XM_011532999.1:c.437G>T | XP_011531301.1:p.Arg146Leu | |
| XR_939696.1:n.742G>T | ||
| XM_005264439.4:c.22G>T | XP_005264496.1:p.Gly8Trp | |
| XM_011532998.3:c.22G>T | XP_011531300.1:p.Gly8Trp | |
| XM_011532999.2:c.437G>T | XP_011531301.1:p.Arg146Leu | |
| XM_017004524.1:c.437G>T | XP_016860013.1:p.Arg146Leu | |
| XM_017004525.1:c.269G>T | XP_016860014.1:p.Arg90Leu | |
| XM_017004526.1:c.437G>T | XP_016860015.1:p.Arg146Leu | |
| XM_017004529.1:c.437G>T | XP_016860018.1:p.Arg146Leu | |
| XR_001738853.2:n.749G>T | ||
| XR_001738854.1:n.748G>T | ||
| NM_020458.4:c.437G>T MANE Select | NP_065191.2:p.Arg146Leu | |
| NM_001288951.2:c.437G>T | NP_001275880.1:p.Arg146Leu | |
| NM_001288953.2:c.335G>T | NP_001275882.1:p.Arg112Leu | |
| NM_001288955.2:c.-468G>T | NP_001275884.1:n.-468G>T |