Linked Data
ClinVar Variation Id:
224614
ClinVar RCV Id:
RCV000210242
dbSNP Id:
rs869312818
gnomAD v4:
1-207322484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207322484G>A , CM000663.2:g.207322484G>A | GRCh38 |
| NC_000001.10:g.207495829G>A , CM000663.1:g.207495829G>A | GRCh37 |
| NC_000001.9:g.205562452G>A | NCBI36 |
| NG_007465.1:g.6013G>A , LRG_127:g.6013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695822.1:n.450G>A | ||
| ENST00000695823.1:c.203G>A | ENSP00000512200.1:p.Ser68Asn | |
| ENST00000695824.1:c.203G>A | ENSP00000512201.1:p.Ser68Asn | |
| ENST00000695825.1:c.203G>A | ENSP00000512202.1:p.Ser68Asn | |
| ENST00000695826.1:c.203G>A | ENSP00000512203.1:p.Ser68Asn | |
| ENST00000695827.1:n.431G>A | ||
| ENST00000695828.1:c.203G>A | ENSP00000512204.1:p.Ser68Asn | |
| ENST00000695829.1:n.308G>A | ||
| ENST00000695830.1:n.21G>A | ||
| ENST00000367064.9:c.203G>A MANE Select | ENSP00000356031.4:p.Ser68Asn | |
| ENST00000391921.9:c.203G>A | ENSP00000375788.4:p.Ser68Asn | |
| ENST00000644836.1:c.203G>A | ENSP00000495518.1:p.Ser68Asn | |
| ENST00000645323.1:c.203G>A | ENSP00000496251.1:p.Ser68Asn | |
| ENST00000314754.12:c.203G>A | ENSP00000316333.8:p.Ser68Asn | |
| ENST00000343420.6:c.232G>A | ||
| ENST00000367063.6:c.203G>A | ENSP00000356030.2:p.Ser68Asn | |
| ENST00000367064.7:c.203G>A | ENSP00000356031.3:p.Ser68Asn | |
| ENST00000367067.8:c.203G>A | ENSP00000356034.5:p.Ser68Asn | |
| ENST00000391921.8:c.203G>A | ENSP00000375788.4:p.Ser68Asn | |
| ENST00000488171.5:n.282G>A | ||
| NM_000574.4:c.203G>A | NP_000565.1:p.Ser68Asn | |
| NM_001114752.2:c.203G>A | NP_001108224.1:p.Ser68Asn | |
| NM_001300902.1:c.203G>A | NP_001287831.1:p.Ser68Asn | |
| NM_001300903.1:c.203G>A | NP_001287832.1:p.Ser68Asn | |
| NM_001300904.1:c.203G>A | NP_001287833.1:p.Ser68Asn | |
| NR_125349.1:n.497G>A | ||
| XM_017000467.2:c.203G>A | XP_016855956.1:p.Ser68Asn | |
| NM_000574.5:c.203G>A MANE Select | NP_000565.1:p.Ser68Asn | |
| NM_001114752.3:c.203G>A | NP_001108224.1:p.Ser68Asn | |
| NM_001300902.2:c.203G>A | NP_001287831.1:p.Ser68Asn | |
| NM_001300903.2:c.203G>A | NP_001287832.1:p.Ser68Asn | |
| NM_001300904.2:c.203G>A | NP_001287833.1:p.Ser68Asn | |
| NR_125349.2:n.291G>A |