Linked Data
dbSNP Id:
rs782694072
ExAC:
19:42482398 C / T
gnomAD v2:
19-42482398-C-T
gnomAD v4:
19-41978246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41978246C>T , CM000681.2:g.41978246C>T | GRCh38 |
| NC_000019.9:g.42482398C>T , CM000681.1:g.42482398C>T | GRCh37 |
| NC_000019.8:g.47174238C>T | NCBI36 |
| NG_008015.1:g.20985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.1750G>A | ENSP00000444688.1:p.Asp584Asn | |
| ENST00000644613.1:c.1711G>A | ENSP00000494711.1:p.Asp571Asn | |
| ENST00000648268.1:c.1711G>A MANE Select | ENSP00000498113.1:p.Asp571Asn | |
| ENST00000302102.9:c.1711G>A | ENSP00000302397.5:p.Asp571Asn | |
| ENST00000441343.5:c.1711G>A | ENSP00000411503.1:p.Asp571Asn | |
| ENST00000543770.5:c.1744G>A | ENSP00000437577.1:p.Asp582Asn | |
| ENST00000545399.5:c.1750G>A | ENSP00000444688.1:p.Asp584Asn | |
| ENST00000602133.5:c.1621G>A | ENSP00000471581.1:p.Asp541Asn | |
| NM_001256213.1:c.1744G>A | NP_001243142.1:p.Asp582Asn | |
| NM_001256214.1:c.1750G>A | NP_001243143.1:p.Asp584Asn | |
| NM_152296.4:c.1711G>A | NP_689509.1:p.Asp571Asn | |
| XM_011526991.1:c.1621G>A | XP_011525293.1:p.Asp541Asn | |
| NM_152296.5:c.1711G>A MANE Select | NP_689509.1:p.Asp571Asn | |
| NM_001256214.2:c.1750G>A | NP_001243143.1:p.Asp584Asn | |
| NM_001256213.2:c.1744G>A | NP_001243142.1:p.Asp582Asn |