Linked Data
ClinVar Variation Id:
378847
dbSNP Id:
rs759898765
ExAC:
1:215853501 C / T
gnomAD v2:
1-215853501-C-T
gnomAD v4:
1-215680159-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215680159C>T , CM000663.2:g.215680159C>T | GRCh38 |
| NC_000001.10:g.215853501C>T , CM000663.1:g.215853501C>T | GRCh37 |
| NC_000001.9:g.213920124C>T | NCBI36 |
| NG_009497.1:g.748238G>A | |
| NG_009497.2:g.748290G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12284G>A MANE Select | ENSP00000305941.3:p.Gly4095Asp | |
| ENST00000674083.1:c.12284G>A | ENSP00000501296.1:p.Gly4095Asp | |
| ENST00000307340.7:c.12284G>A | ENSP00000305941.3:p.Gly4095Asp | |
| NM_206933.2:c.12284G>A | NP_996816.2:p.Gly4095Asp | |
| NM_206933.3:c.12284G>A | NP_996816.2:p.Gly4095Asp | |
| NM_206933.4:c.12284G>A MANE Select | NP_996816.3:p.Gly4095Asp |