Linked Data
dbSNP Id:
rs574946492
ExAC:
11:124742904 G / C
gnomAD v2:
11-124742904-G-C
gnomAD v3:
11-124873008-G-C
gnomAD v4:
11-124873008-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124873008G>C , CM000673.2:g.124873008G>C | GRCh38 |
| NC_000011.9:g.124742904G>C , CM000673.1:g.124742904G>C | GRCh37 |
| NC_000011.8:g.124248114G>C | NCBI36 |
| NG_016214.1:g.12600G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1455G>C MANE Select | ENSP00000380903.1:p.Lys485Asn | |
| ENST00000397801.5:c.1455G>C | ENSP00000380903.1:p.Lys485Asn | |
| ENST00000538940.5:c.1389G>C | ENSP00000441797.1:p.Lys463Asn | |
| NM_022370.3:c.1455G>C | NP_071765.2:p.Lys485Asn | |
| XM_011542953.1:c.2427G>C | XP_011541255.1:p.Lys809Asn | |
| XM_017018122.1:c.1389G>C | XP_016873611.1:p.Lys463Asn | |
| NM_022370.4:c.1455G>C MANE Select | NP_071765.2:p.Lys485Asn |