Linked Data
ClinVar Variation Id:
336671
ClinVar RCV Id:
RCV000396571
dbSNP Id:
rs371789976
ExAC:
2:61275851 G / A
gnomAD v2:
2-61275851-G-A
gnomAD v3:
2-61048716-G-A
gnomAD v4:
2-61048716-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61048716G>A , CM000664.2:g.61048716G>A | GRCh38 |
| NC_000002.11:g.61275851G>A , CM000664.1:g.61275851G>A | GRCh37 |
| NC_000002.10:g.61129355G>A | NCBI36 |
| NG_008665.1:g.36040G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.1158G>A MANE Select | ENSP00000295030.4:p.Lys386= | |
| ENST00000295030.5:c.1158G>A | ENSP00000295030.4:p.Lys386= | |
| NM_002618.3:c.1158G>A | NP_002609.1:p.Lys386= | |
| XM_011532904.1:c.1041G>A | XP_011531206.1:p.Lys347= | |
| NM_002618.4:c.1158G>A MANE Select | NP_002609.1:p.Lys386= |