Linked Data
ClinVar Variation Id:
242219
ClinVar RCV Id:
RCV000243670
RCV000306277
RCV000346034
RCV000405785
RCV002401916
RCV002519810
RCV003316310
RCV003736668
dbSNP Id:
rs35809415
ExAC:
5:1282654 G / A
gnomAD v2:
5-1282654-G-A
gnomAD v3:
5-1282539-G-A
gnomAD v4:
5-1282539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1282539G>A , CM000667.2:g.1282539G>A | GRCh38 |
| NC_000005.9:g.1282654G>A , CM000667.1:g.1282654G>A | GRCh37 |
| NC_000005.8:g.1335654G>A | NCBI36 |
| NG_009265.1:g.17509C>T , LRG_343:g.17509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1659C>T MANE Select | ENSP00000309572.5:p.Val553= | |
| ENST00000656021.1:c.*1205C>T | ENSP00000499759.1:n.*1205C>T | |
| ENST00000310581.9:c.1659C>T | ENSP00000309572.5:p.Val553= | |
| ENST00000334602.10:c.1659C>T | ENSP00000334346.6:p.Val553= | |
| ENST00000460137.6:c.1659C>T | ENSP00000425003.1:p.Val553= | |
| ENST00000484238.6:n.472C>T | ||
| ENST00000508104.2:c.1659C>T | ENSP00000426042.2:p.Val553= | |
| NM_001193376.1:c.1659C>T | NP_001180305.1:p.Val553= | |
| NM_198253.2:c.1659C>T , LRG_343t1:c.1659C>T | NP_937983.2:p.Val553= | |
| XM_011514104.1:c.129C>T | XP_011512406.1:p.Val43= | |
| XM_011514105.1:c.15C>T | XP_011512407.1:p.Val5= | |
| XM_011514106.1:c.15C>T | XP_011512408.1:p.Val5= | |
| NR_149162.1:n.1717C>T | ||
| NR_149163.1:n.1717C>T | ||
| NM_001193376.2:c.1659C>T | NP_001180305.1:p.Val553= | |
| NM_198253.3:c.1659C>T MANE Select | NP_937983.2:p.Val553= | |
| NR_149162.2:n.1738C>T | ||
| NR_149163.2:n.1738C>T | ||
| NM_001193376.3:c.1659C>T | NP_001180305.1:p.Val553= | |
| NR_149162.3:n.1738C>T | ||
| NR_149163.3:n.1738C>T |