Linked Data
dbSNP Id:
rs753518753
ExAC:
11:2187778 C / T
gnomAD v2:
11-2187778-C-T
gnomAD v4:
11-2166548-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166548C>T , CM000673.2:g.2166548C>T | GRCh38 |
| NC_000011.9:g.2187778C>T , CM000673.1:g.2187778C>T | GRCh37 |
| NC_000011.8:g.2144354C>T | NCBI36 |
| NG_008128.1:g.10258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.979G>A MANE Select | ENSP00000325951.4:p.Asp327Asn | |
| ENST00000324155.8:c.*668G>A | ENSP00000325831.3:n.*668G>A | |
| ENST00000333684.9:c.697G>A | ENSP00000328814.6:p.Asp233Asn | |
| ENST00000352909.7:c.979G>A | ENSP00000325951.3:p.Asp327Asn | |
| ENST00000381168.7:c.*699G>A | ENSP00000370560.3:n.*699G>A | |
| ENST00000381175.5:c.1060G>A | ENSP00000370567.1:p.Asp354Asn | |
| ENST00000381178.5:c.1072G>A | ENSP00000370571.1:p.Asp358Asn | |
| ENST00000412076.1:c.137G>A | ||
| ENST00000416223.5:c.273G>A | ||
| ENST00000461172.1:n.144G>A | ||
| ENST00000479437.5:n.528G>A | ||
| NM_000360.3:c.979G>A | NP_000351.2:p.Asp327Asn | |
| NM_199292.2:c.1072G>A | NP_954986.2:p.Asp358Asn | |
| NM_199293.2:c.1060G>A | NP_954987.2:p.Asp354Asn | |
| XM_011520335.1:c.991G>A | XP_011518637.1:p.Asp331Asn | |
| XM_011520335.2:c.991G>A | XP_011518637.1:p.Asp331Asn | |
| NM_000360.4:c.979G>A MANE Select | NP_000351.2:p.Asp327Asn | |
| NM_199292.3:c.1072G>A | NP_954986.2:p.Asp358Asn | |
| NM_199293.3:c.1060G>A | NP_954987.2:p.Asp354Asn |