Linked Data
ClinVar Variation Id:
349816
dbSNP Id:
rs763508870
ExAC:
4:79461828 C / T
gnomAD v2:
4-79461828-C-T
gnomAD v4:
4-78540674-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78540674C>T , CM000666.2:g.78540674C>T | GRCh38 |
| NC_000004.11:g.79461828C>T , CM000666.1:g.79461828C>T | GRCh37 |
| NC_000004.10:g.79680852C>T | NCBI36 |
| NG_015812.1:g.488105C>T | |
| NG_015812.2:g.488105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.11589C>T MANE Select | ENSP00000422834.2:p.Ile3863= | |
| ENST00000512123.3:c.11589C>T | ENSP00000422834.2:p.Ile3863= | |
| NM_025074.6:c.11589C>T | NP_079350.5:p.Ile3863= | |
| XM_006714314.1:c.11583C>T | XP_006714377.1:p.Ile3861= | |
| XM_006714316.1:c.11361C>T | XP_006714379.1:p.Ile3787= | |
| XM_011532270.1:c.9288C>T | XP_011530572.1:p.Ile3096= | |
| XM_011532271.1:c.6477C>T | XP_011530573.1:p.Ile2159= | |
| XM_006714316.3:c.11361C>T | XP_006714379.1:p.Ile3787= | |
| NM_025074.7:c.11589C>T MANE Select | NP_079350.5:p.Ile3863= |