Linked Data
ClinVar Variation Id:
1517921
ClinVar RCV Id:
RCV002041211
dbSNP Id:
rs777379558
ExAC:
15:38643394 A / C
gnomAD v2:
15-38643394-A-C
gnomAD v4:
15-38351193-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351193A>C , CM000677.2:g.38351193A>C | GRCh38 |
| NC_000015.9:g.38643394A>C , CM000677.1:g.38643394A>C | GRCh37 |
| NC_000015.8:g.36430686A>C | NCBI36 |
| NG_008980.1:g.103343A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.864A>C MANE Select | ENSP00000299084.4:p.Lys288Asn | |
| ENST00000299084.8:c.864A>C | ENSP00000299084.4:p.Lys288Asn | |
| NM_152594.2:c.864A>C | NP_689807.1:p.Lys288Asn | |
| XM_005254202.2:c.900A>C | XP_005254259.1:p.Lys300Asn | |
| XM_005254203.3:c.642A>C | XP_005254260.1:p.Lys214Asn | |
| XM_011521288.1:c.801A>C | XP_011519590.1:p.Lys267Asn | |
| XM_011521289.1:c.801A>C | XP_011519591.1:p.Lys267Asn | |
| XM_011521290.1:c.801A>C | XP_011519592.1:p.Lys267Asn | |
| XM_005254202.3:c.900A>C | XP_005254259.1:p.Lys300Asn | |
| XM_011521289.3:c.801A>C | XP_011519591.1:p.Lys267Asn | |
| NM_152594.3:c.864A>C MANE Select | NP_689807.1:p.Lys288Asn |