Linked Data
ClinVar Variation Id:
245824
dbSNP Id:
rs200332462
ExAC:
19:40900490 C / T
gnomAD v2:
19-40900490-C-T
gnomAD v3:
19-40394583-C-T
gnomAD v4:
19-40394583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40394583C>T , CM000681.2:g.40394583C>T | GRCh38 |
| NC_000019.9:g.40900490C>T , CM000681.1:g.40900490C>T | GRCh37 |
| NC_000019.8:g.45592330C>T | NCBI36 |
| NG_007979.1:g.23782G>A , LRG_265:g.23782G>A | |
| NG_051224.1:g.639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.3769G>A MANE Select | ENSP00000326018.6:p.Gly1257Arg | |
| ENST00000673881.1:c.3352G>A | ENSP00000501070.1:p.Gly1118Arg | |
| ENST00000674005.2:c.4054G>A | ENSP00000501261.1:p.Gly1352Arg | |
| ENST00000674773.1:c.3352G>A | ENSP00000502579.1:p.Gly1118Arg | |
| ENST00000675517.1:c.3644G>A | ||
| ENST00000676076.1:c.3630G>A | ||
| ENST00000676260.1:c.3731G>A | ||
| ENST00000676316.1:c.3656G>A | ||
| ENST00000291825.11:c.*3974G>A | ENSP00000291825.6:n.*3974G>A | |
| ENST00000324001.7:c.3769G>A | ENSP00000326018.6:p.Gly1257Arg | |
| NM_020956.2:c.*3974G>A , LRG_265t1:c.*3974G>A | NP_066007.1:n.*3974G>A | |
| NM_181882.2:c.3769G>A , LRG_265t2:c.3769G>A | NP_870998.2:p.Gly1257Arg | |
| XM_011527171.1:c.3769G>A | XP_011525473.1:p.Gly1257Arg | |
| XM_011527171.2:c.3769G>A | XP_011525473.1:p.Gly1257Arg | |
| XM_017027046.1:c.3667G>A | XP_016882535.1:p.Gly1223Arg | |
| XM_017027047.1:c.3667G>A | XP_016882536.1:p.Gly1223Arg | |
| NM_181882.3:c.3769G>A MANE Select | NP_870998.2:p.Gly1257Arg |