Linked Data
ClinVar Variation Id:
3227777
ClinVar RCV Id:
RCV004517526
dbSNP Id:
rs749742502
ExAC:
2:44102487 A / C
gnomAD v2:
2-44102487-A-C
gnomAD v4:
2-43875348-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875348A>C , CM000664.2:g.43875348A>C | GRCh38 |
| NC_000002.11:g.44102487A>C , CM000664.1:g.44102487A>C | GRCh37 |
| NC_000002.10:g.43955991A>C | NCBI36 |
| NG_008884.1:g.41385A>C | |
| NG_008884.2:g.48407A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1691A>C MANE Select | ENSP00000272286.2:p.Asn564Thr | |
| ENST00000272286.2:c.1691A>C | ENSP00000272286.2:p.Asn564Thr | |
| NM_022437.2:c.1691A>C | NP_071882.1:p.Asn564Thr | |
| XM_005264483.2:c.1688A>C | XP_005264540.1:p.Asn563Thr | |
| XM_011533029.1:c.1703A>C | XP_011531331.1:p.Asn568Thr | |
| XM_011533030.1:c.1700A>C | XP_011531332.1:p.Asn567Thr | |
| XM_011533031.1:c.1475A>C | XP_011531333.1:p.Asn492Thr | |
| XR_939707.1:n.2193A>C | ||
| NM_001357321.1:c.1688A>C | NP_001344250.1:p.Asn563Thr | |
| XM_011533029.2:c.1703A>C | XP_011531331.1:p.Asn568Thr | |
| XM_011533030.2:c.1700A>C | XP_011531332.1:p.Asn567Thr | |
| XR_001738891.1:n.2207A>C | ||
| XR_939707.2:n.2207A>C | ||
| NM_022437.3:c.1691A>C MANE Select | NP_071882.1:p.Asn564Thr | |
| NM_001357321.2:c.1688A>C | NP_001344250.1:p.Asn563Thr |