Linked Data
ClinVar Variation Id:
39111
ClinVar RCV Id:
RCV000032378
RCV000987499
RCV001818203
RCV002514133
RCV003137552
RCV003466884
RCV004532476
dbSNP Id:
rs149566858
ExAC:
5:1278865 G / A
gnomAD v2:
5-1278865-G-A
gnomAD v3:
5-1278750-G-A
gnomAD v4:
5-1278750-G-A
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1278750G>A , CM000667.2:g.1278750G>A | GRCh38 |
| NC_000005.9:g.1278865G>A , CM000667.1:g.1278865G>A | GRCh37 |
| NC_000005.8:g.1331865G>A | NCBI36 |
| NG_009265.1:g.21298C>T , LRG_343:g.21298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2177C>T MANE Select | ENSP00000309572.5:p.Thr726Met | |
| ENST00000656021.1:c.*1723C>T | ENSP00000499759.1:n.*1723C>T | |
| ENST00000310581.9:c.2177C>T | ENSP00000309572.5:p.Thr726Met | |
| ENST00000334602.10:c.2177C>T | ENSP00000334346.6:p.Thr726Met | |
| ENST00000460137.6:c.2141C>T | ENSP00000425003.1:p.Thr714Met | |
| ENST00000484238.6:n.990C>T | ||
| ENST00000508104.2:c.2177C>T | ENSP00000426042.2:p.Thr726Met | |
| NM_001193376.1:c.2177C>T | NP_001180305.1:p.Thr726Met | |
| NM_198253.2:c.2177C>T , LRG_343t1:c.2177C>T | NP_937983.2:p.Thr726Met | |
| XM_011514104.1:c.647C>T | XP_011512406.1:p.Thr216Met | |
| XM_011514105.1:c.533C>T | XP_011512407.1:p.Thr178Met | |
| XM_011514106.1:c.533C>T | XP_011512408.1:p.Thr178Met | |
| NR_149162.1:n.2235C>T | ||
| NR_149163.1:n.2199C>T | ||
| NM_001193376.2:c.2177C>T | NP_001180305.1:p.Thr726Met | |
| NM_198253.3:c.2177C>T MANE Select | NP_937983.2:p.Thr726Met | |
| NR_149162.2:n.2256C>T | ||
| NR_149163.2:n.2220C>T | ||
| NM_001193376.3:c.2177C>T | NP_001180305.1:p.Thr726Met | |
| NR_149162.3:n.2256C>T | ||
| NR_149163.3:n.2220C>T |