Linked Data
ClinVar Variation Id:
263104
ClinVar RCV Id:
RCV000244189
RCV000287182
RCV000336462
RCV000372475
RCV001580477
RCV002411132
RCV003316456
RCV002518668
dbSNP Id:
rs140951453
ExAC:
5:1280374 G / A
gnomAD v2:
5-1280374-G-A
gnomAD v3:
5-1280259-G-A
gnomAD v4:
5-1280259-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1280259G>A , CM000667.2:g.1280259G>A | GRCh38 |
| NC_000005.9:g.1280374G>A , CM000667.1:g.1280374G>A | GRCh37 |
| NC_000005.8:g.1333374G>A | NCBI36 |
| NG_009265.1:g.19789C>T , LRG_343:g.19789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1849C>T MANE Select | ENSP00000309572.5:p.Leu617= | |
| ENST00000656021.1:c.*1395C>T | ENSP00000499759.1:n.*1395C>T | |
| ENST00000310581.9:c.1849C>T | ENSP00000309572.5:p.Leu617= | |
| ENST00000334602.10:c.1849C>T | ENSP00000334346.6:p.Leu617= | |
| ENST00000460137.6:c.1849C>T | ENSP00000425003.1:p.Leu617= | |
| ENST00000484238.6:n.662C>T | ||
| ENST00000508104.2:c.1849C>T | ENSP00000426042.2:p.Leu617= | |
| NM_001193376.1:c.1849C>T | NP_001180305.1:p.Leu617= | |
| NM_198253.2:c.1849C>T , LRG_343t1:c.1849C>T | NP_937983.2:p.Leu617= | |
| XM_011514104.1:c.319C>T | XP_011512406.1:p.Leu107= | |
| XM_011514105.1:c.205C>T | XP_011512407.1:p.Leu69= | |
| XM_011514106.1:c.205C>T | XP_011512408.1:p.Leu69= | |
| NR_149162.1:n.1907C>T | ||
| NR_149163.1:n.1907C>T | ||
| NM_001193376.2:c.1849C>T | NP_001180305.1:p.Leu617= | |
| NM_198253.3:c.1849C>T MANE Select | NP_937983.2:p.Leu617= | |
| NR_149162.2:n.1928C>T | ||
| NR_149163.2:n.1928C>T | ||
| NM_001193376.3:c.1849C>T | NP_001180305.1:p.Leu617= | |
| NR_149162.3:n.1928C>T | ||
| NR_149163.3:n.1928C>T |