Linked Data
ClinVar Variation Id:
2545443
ClinVar RCV Id:
RCV003242639
dbSNP Id:
rs1281700477
gnomAD v3:
3-165829927-G-T
gnomAD v4:
3-165829927-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829927G>T , CM000665.2:g.165829927G>T | GRCh38 |
| NC_000003.11:g.165547715G>T , CM000665.1:g.165547715G>T | GRCh37 |
| NC_000003.10:g.167030409G>T | NCBI36 |
| NG_009031.1:g.12539C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1107C>A MANE Select | ENSP00000264381.3:p.Asn369Lys | |
| ENST00000264381.7:c.1107C>A | ENSP00000264381.3:p.Asn369Lys | |
| ENST00000479451.5:c.107+7387C>A | ENSP00000418325.1:n.107+7387C>A | |
| ENST00000482958.1:c.1107C>A | ENSP00000419804.1:p.Asn369Lys | |
| ENST00000488954.1:c.107+7387C>A | ENSP00000418504.1:n.107+7387C>A | |
| ENST00000497011.5:c.1107C>A | ENSP00000419505.1:p.Asn369Lys | |
| NM_000055.2:c.1107C>A | NP_000046.1:p.Asn369Lys | |
| XM_005247685.1:c.1230C>A | XP_005247742.1:p.Asn410Lys | |
| NM_000055.3:c.1107C>A | NP_000046.1:p.Asn369Lys | |
| NR_137635.1:n.159+7387C>A | ||
| NR_137636.1:n.1274C>A | ||
| NM_000055.4:c.1107C>A MANE Select | NP_000046.1:p.Asn369Lys | |
| NR_137635.2:n.110+7387C>A | ||
| NR_137636.2:n.1225C>A |