Linked Data
ClinVar Variation Id:
523353
dbSNP Id:
rs763507546
ExAC:
4:88986900 C / T
gnomAD v2:
4-88986900-C-T
gnomAD v3:
4-88065748-C-T
gnomAD v4:
4-88065748-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88065748C>T , CM000666.2:g.88065748C>T | GRCh38 |
| NC_000004.11:g.88986900C>T , CM000666.1:g.88986900C>T | GRCh37 |
| NC_000004.10:g.89205924C>T | NCBI36 |
| NG_008604.1:g.63081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2241-14C>T MANE Select | ENSP00000237596.2:n.2241-14C>T | |
| ENST00000237596.6:c.2241-14C>T | ENSP00000237596.2:n.2241-14C>T | |
| ENST00000502363.1:c.495-14C>T | ENSP00000425289.1:n.495-14C>T | |
| ENST00000508588.5:c.495-14C>T | ENSP00000427131.1:n.495-14C>T | |
| ENST00000511337.5:n.493-14C>T | ||
| ENST00000512858.1:n.705C>T | ||
| NM_000297.3:c.2241-14C>T | NP_000288.1:n.2241-14C>T | |
| XM_011532028.1:c.2016-14C>T | XP_011530330.1:n.2016-14C>T | |
| XM_011532029.1:c.1521-14C>T | XP_011530331.1:n.1521-14C>T | |
| XM_011532030.1:c.1401-14C>T | XP_011530332.1:n.1401-14C>T | |
| NR_156488.1:n.2207-14C>T | ||
| XM_011532028.2:c.2016-14C>T | XP_011530330.1:n.2016-14C>T | |
| XM_011532030.2:c.1401-14C>T | XP_011530332.1:n.1401-14C>T | |
| NM_000297.4:c.2241-14C>T MANE Select | NP_000288.1:n.2241-14C>T | |
| NR_156488.2:n.2219-14C>T |