Linked Data
ClinVar Variation Id:
539209
dbSNP Id:
rs559028617
ExAC:
5:1264673 C / T
gnomAD v2:
5-1264673-C-T
gnomAD v3:
5-1264558-C-T
gnomAD v4:
5-1264558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1264558C>T , CM000667.2:g.1264558C>T | GRCh38 |
| NC_000005.9:g.1264673C>T , CM000667.1:g.1264673C>T | GRCh37 |
| NC_000005.8:g.1317673C>T | NCBI36 |
| NG_009265.1:g.35490G>A , LRG_343:g.35490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2689G>A MANE Select | ENSP00000309572.5:p.Val897Met | |
| ENST00000656021.1:c.*2235G>A | ENSP00000499759.1:n.*2235G>A | |
| ENST00000310581.9:c.2689G>A | ENSP00000309572.5:p.Val897Met | |
| ENST00000334602.10:c.2654+1906G>A | ENSP00000334346.6:n.2654+1906G>A | |
| ENST00000460137.6:c.2436+1906G>A | ENSP00000425003.1:n.2436+1906G>A | |
| ENST00000484238.6:n.1285+1906G>A | ||
| ENST00000503656.1:n.96G>A | ||
| NM_001193376.1:c.2654+1906G>A | NP_001180305.1:n.2654+1906G>A | |
| NM_198253.2:c.2689G>A , LRG_343t1:c.2689G>A | NP_937983.2:p.Val897Met | |
| XM_011514104.1:c.1159G>A | XP_011512406.1:p.Val387Met | |
| XM_011514105.1:c.1045G>A | XP_011512407.1:p.Val349Met | |
| XM_011514106.1:c.1045G>A | XP_011512408.1:p.Val349Met | |
| NR_149162.1:n.2530+1906G>A | ||
| NR_149163.1:n.2494+1906G>A | ||
| NM_001193376.2:c.2654+1906G>A | NP_001180305.1:n.2654+1906G>A | |
| NM_198253.3:c.2689G>A MANE Select | NP_937983.2:p.Val897Met | |
| NR_149162.2:n.2551+1906G>A | ||
| NR_149163.2:n.2515+1906G>A | ||
| NM_001193376.3:c.2654+1906G>A | NP_001180305.1:n.2654+1906G>A | |
| NR_149162.3:n.2551+1906G>A | ||
| NR_149163.3:n.2515+1906G>A |