Linked Data
ClinVar Variation Id:
242235
ClinVar RCV Id:
RCV001154848
RCV001154849
RCV001156515
RCV001820782
RCV002255342
RCV002436049
RCV003316312
RCV003103748
dbSNP Id:
rs376266401
ExAC:
5:1258754 C / T
gnomAD v2:
5-1258754-C-T
gnomAD v3:
5-1258639-C-T
gnomAD v4:
5-1258639-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1258639C>T , CM000667.2:g.1258639C>T | GRCh38 |
| NC_000005.9:g.1258754C>T , CM000667.1:g.1258754C>T | GRCh37 |
| NC_000005.8:g.1311754C>T | NCBI36 |
| NG_009265.1:g.41409G>A , LRG_343:g.41409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2991G>A MANE Select | ENSP00000309572.5:p.Val997= | |
| ENST00000656021.1:c.*2537G>A | ENSP00000499759.1:n.*2537G>A | |
| ENST00000667927.1:n.279G>A | ||
| ENST00000310581.9:c.2991G>A | ENSP00000309572.5:p.Val997= | |
| ENST00000334602.10:c.2802G>A | ENSP00000334346.6:p.Val934= | |
| ENST00000460137.6:c.2584G>A | ENSP00000425003.1:n.2584G>A | |
| ENST00000484238.6:n.1433G>A | ||
| NM_001193376.1:c.2802G>A | NP_001180305.1:p.Val934= | |
| NM_198253.2:c.2991G>A , LRG_343t1:c.2991G>A | NP_937983.2:p.Val997= | |
| XM_011514104.1:c.1461G>A | XP_011512406.1:p.Val487= | |
| XM_011514105.1:c.1347G>A | XP_011512407.1:p.Val449= | |
| XM_011514106.1:c.1347G>A | XP_011512408.1:p.Val449= | |
| NR_149162.1:n.2678G>A | ||
| NR_149163.1:n.2642G>A | ||
| NM_001193376.2:c.2802G>A | NP_001180305.1:p.Val934= | |
| NM_198253.3:c.2991G>A MANE Select | NP_937983.2:p.Val997= | |
| NR_149162.2:n.2699G>A | ||
| NR_149163.2:n.2663G>A | ||
| NM_001193376.3:c.2802G>A | NP_001180305.1:p.Val934= | |
| NR_149162.3:n.2699G>A | ||
| NR_149163.3:n.2663G>A |