Linked Data
ClinVar Variation Id:
468787
ClinVar RCV Id:
RCV000545664
dbSNP Id:
rs763738243
ExAC:
15:38643606 T / A
gnomAD v2:
15-38643606-T-A
gnomAD v4:
15-38351405-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351405T>A , CM000677.2:g.38351405T>A | GRCh38 |
| NC_000015.9:g.38643606T>A , CM000677.1:g.38643606T>A | GRCh37 |
| NC_000015.8:g.36430898T>A | NCBI36 |
| NG_008980.1:g.103555T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1076T>A MANE Select | ENSP00000299084.4:p.Ile359Asn | |
| ENST00000299084.8:c.1076T>A | ENSP00000299084.4:p.Ile359Asn | |
| NM_152594.2:c.1076T>A | NP_689807.1:p.Ile359Asn | |
| XM_005254202.2:c.1112T>A | XP_005254259.1:p.Ile371Asn | |
| XM_005254203.3:c.854T>A | XP_005254260.1:p.Ile285Asn | |
| XM_011521288.1:c.1013T>A | XP_011519590.1:p.Ile338Asn | |
| XM_011521289.1:c.1013T>A | XP_011519591.1:p.Ile338Asn | |
| XM_011521290.1:c.1013T>A | XP_011519592.1:p.Ile338Asn | |
| XM_005254202.3:c.1112T>A | XP_005254259.1:p.Ile371Asn | |
| XM_011521289.3:c.1013T>A | XP_011519591.1:p.Ile338Asn | |
| NM_152594.3:c.1076T>A MANE Select | NP_689807.1:p.Ile359Asn |