Linked Data
ClinVar Variation Id:
757069
ClinVar RCV Id:
RCV002544483
dbSNP Id:
rs1579574740
gnomAD v4:
5-1278650-G-A
MyVariant Identifiers:
chr5:g.1278765G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1278650G>A , CM000667.2:g.1278650G>A | GRCh38 |
| NC_000005.9:g.1278765G>A , CM000667.1:g.1278765G>A | GRCh37 |
| NC_000005.8:g.1331765G>A | NCBI36 |
| NG_009265.1:g.21398C>T , LRG_343:g.21398C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.2277C>T MANE Select | ENSP00000309572.5:p.Phe759= | |
| ENST00000656021.1:c.*1823C>T | ENSP00000499759.1:n.*1823C>T | |
| ENST00000310581.9:c.2277C>T | ENSP00000309572.5:p.Phe759= | |
| ENST00000334602.10:c.2277C>T | ENSP00000334346.6:p.Phe759= | |
| ENST00000460137.6:c.2241C>T | ENSP00000425003.1:p.Phe747= | |
| ENST00000484238.6:n.1090C>T | ||
| ENST00000508104.2:c.2277C>T | ENSP00000426042.2:p.Phe759= | |
| NM_001193376.1:c.2277C>T | NP_001180305.1:p.Phe759= | |
| NM_198253.2:c.2277C>T , LRG_343t1:c.2277C>T | NP_937983.2:p.Phe759= | |
| XM_011514104.1:c.747C>T | XP_011512406.1:p.Phe249= | |
| XM_011514105.1:c.633C>T | XP_011512407.1:p.Phe211= | |
| XM_011514106.1:c.633C>T | XP_011512408.1:p.Phe211= | |
| NR_149162.1:n.2335C>T | ||
| NR_149163.1:n.2299C>T | ||
| NM_001193376.2:c.2277C>T | NP_001180305.1:p.Phe759= | |
| NM_198253.3:c.2277C>T MANE Select | NP_937983.2:p.Phe759= | |
| NR_149162.2:n.2356C>T | ||
| NR_149163.2:n.2320C>T | ||
| NM_001193376.3:c.2277C>T | NP_001180305.1:p.Phe759= | |
| NR_149162.3:n.2356C>T | ||
| NR_149163.3:n.2320C>T |