Linked Data
ClinVar Variation Id:
526214
ClinVar RCV Id:
RCV001273893
dbSNP Id:
rs777016570
ExAC:
11:2193004 C / T
gnomAD v2:
11-2193004-C-T
gnomAD v3:
11-2171774-C-T
gnomAD v4:
11-2171774-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171774C>T , CM000673.2:g.2171774C>T | GRCh38 |
| NC_000011.9:g.2193004C>T , CM000673.1:g.2193004C>T | GRCh37 |
| NC_000011.8:g.2149580C>T | NCBI36 |
| NG_008128.1:g.5032G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.13G>A MANE Select | ENSP00000325951.4:p.Asp5Asn | |
| ENST00000324155.8:c.13G>A | ENSP00000325831.3:p.Asp5Asn | |
| ENST00000333684.9:c.13G>A | ENSP00000328814.6:p.Asp5Asn | |
| ENST00000352909.7:c.13G>A | ENSP00000325951.3:p.Asp5Asn | |
| ENST00000381168.7:c.13G>A | ENSP00000370560.3:p.Asp5Asn | |
| ENST00000381175.5:c.13G>A | ENSP00000370567.1:p.Asp5Asn | |
| ENST00000381178.5:c.13G>A | ENSP00000370571.1:p.Asp5Asn | |
| NM_000360.3:c.13G>A | NP_000351.2:p.Asp5Asn | |
| NM_199292.2:c.13G>A | NP_954986.2:p.Asp5Asn | |
| NM_199293.2:c.13G>A | NP_954987.2:p.Asp5Asn | |
| XM_011520335.1:c.13G>A | XP_011518637.1:p.Asp5Asn | |
| XM_011520335.2:c.13G>A | XP_011518637.1:p.Asp5Asn | |
| NM_000360.4:c.13G>A MANE Select | NP_000351.2:p.Asp5Asn | |
| NM_199292.3:c.13G>A | NP_954986.2:p.Asp5Asn | |
| NM_199293.3:c.13G>A | NP_954987.2:p.Asp5Asn |