Linked Data
ClinVar Variation Id:
887703
ClinVar RCV Id:
RCV001120598
dbSNP Id:
rs758206600
ExAC:
15:43545788 C / G
gnomAD v2:
15-43545788-C-G
gnomAD v3:
15-43253590-C-G
gnomAD v4:
15-43253590-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43253590C>G , CM000677.2:g.43253590C>G | GRCh38 |
| NC_000015.9:g.43545788C>G , CM000677.1:g.43545788C>G | GRCh37 |
| NC_000015.8:g.41333080C>G | NCBI36 |
| NG_016124.1:g.18268G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220420.10:c.600G>C MANE Select | ENSP00000220420.5:p.Lys200Asn | |
| ENST00000635871.1:n.69G>C | ||
| ENST00000220420.9:c.600G>C | ENSP00000220420.5:p.Lys200Asn | |
| ENST00000349114.8:c.354G>C | ENSP00000220419.8:p.Lys118Asn | |
| ENST00000610827.4:c.597G>C | ENSP00000479732.1:p.Lys199Asn | |
| ENST00000611276.4:c.351G>C | ENSP00000482542.1:p.Lys117Asn | |
| ENST00000622115.1:c.603G>C | ENSP00000479638.1:p.Lys201Asn | |
| NM_004245.3:c.354G>C | NP_004236.1:p.Lys118Asn | |
| NM_201631.3:c.600G>C | NP_963925.2:p.Lys200Asn | |
| XM_011522229.1:c.600G>C | XP_011520531.1:p.Lys200Asn | |
| XR_931948.1:n.774G>C | ||
| NM_004245.4:c.354G>C | NP_004236.1:p.Lys118Asn | |
| NM_201631.4:c.600G>C MANE Select | NP_963925.2:p.Lys200Asn |