Linked Data
dbSNP Id:
rs368125569
ExAC:
11:124742946 G / T
gnomAD v2:
11-124742946-G-T
gnomAD v3:
11-124873050-G-T
gnomAD v4:
11-124873050-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124873050G>T , CM000673.2:g.124873050G>T | GRCh38 |
| NC_000011.9:g.124742946G>T , CM000673.1:g.124742946G>T | GRCh37 |
| NC_000011.8:g.124248156G>T | NCBI36 |
| NG_016214.1:g.12642G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1497G>T MANE Select | ENSP00000380903.1:p.Lys499Asn | |
| ENST00000397801.5:c.1497G>T | ENSP00000380903.1:p.Lys499Asn | |
| ENST00000538940.5:c.1431G>T | ENSP00000441797.1:p.Lys477Asn | |
| NM_022370.3:c.1497G>T | NP_071765.2:p.Lys499Asn | |
| XM_011542953.1:c.2469G>T | XP_011541255.1:p.Lys823Asn | |
| XM_017018122.1:c.1431G>T | XP_016873611.1:p.Lys477Asn | |
| NM_022370.4:c.1497G>T MANE Select | NP_071765.2:p.Lys499Asn |