Linked Data
ClinVar Variation Id:
3004463
ClinVar RCV Id:
RCV003866102
dbSNP Id:
rs767712486
ExAC:
1:215848858 A / T
gnomAD v2:
1-215848858-A-T
gnomAD v4:
1-215675516-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675516A>T , CM000663.2:g.215675516A>T | GRCh38 |
| NC_000001.10:g.215848858A>T , CM000663.1:g.215848858A>T | GRCh37 |
| NC_000001.9:g.213915481A>T | NCBI36 |
| NG_009497.1:g.752881T>A | |
| NG_009497.2:g.752933T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12395T>A MANE Select | ENSP00000305941.3:p.Leu4132Gln | |
| ENST00000674083.1:c.12395T>A | ENSP00000501296.1:p.Leu4132Gln | |
| ENST00000307340.7:c.12395T>A | ENSP00000305941.3:p.Leu4132Gln | |
| NM_206933.2:c.12395T>A | NP_996816.2:p.Leu4132Gln | |
| NM_206933.3:c.12395T>A | NP_996816.2:p.Leu4132Gln | |
| NM_206933.4:c.12395T>A MANE Select | NP_996816.3:p.Leu4132Gln |