Linked Data
ClinVar Variation Id:
1934831
ClinVar RCV Id:
RCV002622762
dbSNP Id:
rs1285626949
gnomAD v2:
1-215901723-G-T
gnomAD v4:
1-215728381-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728381G>T , CM000663.2:g.215728381G>T | GRCh38 |
| NC_000001.10:g.215901723G>T , CM000663.1:g.215901723G>T | GRCh37 |
| NC_000001.9:g.213968346G>T | NCBI36 |
| NG_009497.1:g.700016C>A | |
| NG_009497.2:g.700068C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11715C>A MANE Select | ENSP00000305941.3:p.Arg3905= | |
| ENST00000674083.1:c.11715C>A | ENSP00000501296.1:p.Arg3905= | |
| ENST00000307340.7:c.11715C>A | ENSP00000305941.3:p.Arg3905= | |
| NM_206933.2:c.11715C>A | NP_996816.2:p.Arg3905= | |
| NM_206933.3:c.11715C>A | NP_996816.2:p.Arg3905= | |
| NM_206933.4:c.11715C>A MANE Select | NP_996816.3:p.Arg3905= |