Linked Data
ClinVar Variation Id:
488508
dbSNP Id:
rs763799125
ExAC:
19:44012936 C / T
gnomAD v2:
19-44012936-C-T
gnomAD v4:
19-43508784-C-T
PubMed:
PMID:28933811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43508784C>T , CM000681.2:g.43508784C>T | GRCh38 |
| NC_000019.9:g.44012936C>T , CM000681.1:g.44012936C>T | GRCh37 |
| NC_000019.8:g.48704776C>T | NCBI36 |
| NG_008141.1:g.23461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.586G>A MANE Select | ENSP00000292147.1:p.Asp196Asn | |
| ENST00000292147.6:c.586G>A | ENSP00000292147.1:p.Asp196Asn | |
| ENST00000594342.5:c.*149G>A | ENSP00000469652.1:n.*149G>A | |
| ENST00000598330.1:c.*149G>A | ENSP00000469219.1:n.*149G>A | |
| ENST00000600651.5:c.586G>A | ENSP00000469037.1:p.Asp196Asn | |
| NM_014297.3:c.586G>A | NP_055112.2:p.Asp196Asn | |
| XM_005258687.2:c.505G>A | XP_005258744.1:p.Asp169Asn | |
| XM_005258688.2:c.217G>A | XP_005258745.1:p.Asp73Asn | |
| XM_011526685.1:c.307G>A | XP_011524987.1:p.Asp103Asn | |
| NM_001320867.1:c.553G>A | NP_001307796.1:p.Asp185Asn | |
| NM_001320868.1:c.217G>A | NP_001307797.1:p.Asp73Asn | |
| NM_001320869.1:c.292G>A | NP_001307798.1:p.Asp98Asn | |
| NM_014297.4:c.586G>A | NP_055112.2:p.Asp196Asn | |
| XM_005258687.4:c.505G>A | XP_005258744.1:p.Asp169Asn | |
| NM_014297.5:c.586G>A MANE Select | NP_055112.2:p.Asp196Asn | |
| NM_001320867.2:c.553G>A | NP_001307796.1:p.Asp185Asn | |
| NM_001320868.2:c.217G>A | NP_001307797.1:p.Asp73Asn | |
| NM_001320869.2:c.292G>A | NP_001307798.1:p.Asp98Asn |