Linked Data
ClinVar Variation Id:
178968
dbSNP Id:
rs569032124
ExAC:
17:72915779 G / A
gnomAD v2:
17-72915779-G-A
gnomAD v3:
17-74919684-G-A
gnomAD v4:
17-74919684-G-A
PubMed:
PMID:22135276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919684G>A , CM000679.2:g.74919684G>A | GRCh38 |
| NC_000017.10:g.72915779G>A , CM000679.1:g.72915779G>A | GRCh37 |
| NC_000017.9:g.70427374G>A | NCBI36 |
| NG_007882.1:g.8573C>T | |
| NG_033062.1:g.410G>A | |
| NG_007882.2:g.8580C>T | |
| NG_033062.2:g.410G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1152C>T MANE Select | ENSP00000480279.1:p.Asp384= | |
| ENST00000579243.1:c.*751C>T | ENSP00000462568.1:n.*751C>T | |
| ENST00000614341.4:c.1152C>T | ENSP00000480279.1:p.Asp384= | |
| NM_001282489.2:c.843C>T | NP_001269418.1:p.Asp281= | |
| NM_173477.4:c.1152C>T | NP_775748.2:p.Asp384= | |
| XM_011524296.1:c.843C>T | XP_011522598.1:p.Asp281= | |
| XM_011524296.2:c.843C>T | XP_011522598.1:p.Asp281= | |
| NM_173477.5:c.1152C>T MANE Select | NP_775748.2:p.Asp384= | |
| NM_001282489.3:c.843C>T | NP_001269418.1:p.Asp281= |