Linked Data
ClinVar Variation Id:
1697749
dbSNP Id:
rs1432630427
gnomAD v2:
16-2096258-C-G
gnomAD v3:
16-2046257-C-G
gnomAD v4:
16-2046257-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046257C>G , CM000678.2:g.2046257C>G | GRCh38 |
| NC_000016.9:g.2096258C>G , CM000678.1:g.2096258C>G | GRCh37 |
| NC_000016.8:g.2036259C>G | NCBI36 |
| NG_005895.1:g.1952C>G , LRG_487:g.1952C>G | |
| NG_008412.1:g.6610G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.225G>C MANE Select | ENSP00000498421.1:p.Lys75Asn | |
| ENST00000651583.1:c.180G>C | ENSP00000498821.1:p.Lys60Asn | |
| ENST00000219066.5:c.249G>C | ENSP00000219066.1:p.Lys83Asn | |
| ENST00000561841.1:c.145G>C | ||
| ENST00000566380.5:c.188G>C | ||
| ENST00000568513.5:c.173+23G>C | ||
| NM_002528.5:c.249G>C | NP_002519.1:p.Lys83Asn | |
| XM_011522505.1:c.249G>C | XP_011520807.1:p.Lys83Asn | |
| NM_001318193.1:c.249G>C | NP_001305122.1:p.Lys83Asn | |
| NM_001318194.1:c.24+23G>C | NP_001305123.1:n.24+23G>C | |
| NM_002528.6:c.249G>C | NP_002519.1:p.Lys83Asn | |
| XM_017023253.1:c.249G>C | XP_016878742.1:p.Lys83Asn | |
| NM_001318193.2:c.225G>C | NP_001305122.2:p.Lys75Asn | |
| NM_002528.7:c.225G>C MANE Select | NP_002519.2:p.Lys75Asn | |
| NM_001318194.2:c.24+23G>C | NP_001305123.1:n.24+23G>C |