Linked Data
ClinVar Variation Id:
1784580
ClinVar RCV Id:
RCV002419609
MyVariant Identifiers:
chr5:g.1279514G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1279399G>T , CM000667.2:g.1279399G>T | GRCh38 |
| NC_000005.9:g.1279514G>T , CM000667.1:g.1279514G>T | GRCh37 |
| NC_000005.8:g.1332514G>T | NCBI36 |
| NG_009265.1:g.20649C>A , LRG_343:g.20649C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2022C>A MANE Select | ENSP00000309572.5:p.Gly674= | |
| ENST00000656021.1:c.*1568C>A | ENSP00000499759.1:n.*1568C>A | |
| ENST00000310581.9:c.2022C>A | ENSP00000309572.5:p.Gly674= | |
| ENST00000334602.10:c.2022C>A | ENSP00000334346.6:p.Gly674= | |
| ENST00000460137.6:c.2022C>A | ENSP00000425003.1:p.Gly674= | |
| ENST00000484238.6:n.835C>A | ||
| ENST00000508104.2:c.2022C>A | ENSP00000426042.2:p.Gly674= | |
| NM_001193376.1:c.2022C>A | NP_001180305.1:p.Gly674= | |
| NM_198253.2:c.2022C>A , LRG_343t1:c.2022C>A | NP_937983.2:p.Gly674= | |
| XM_011514104.1:c.492C>A | XP_011512406.1:p.Gly164= | |
| XM_011514105.1:c.378C>A | XP_011512407.1:p.Gly126= | |
| XM_011514106.1:c.378C>A | XP_011512408.1:p.Gly126= | |
| NR_149162.1:n.2080C>A | ||
| NR_149163.1:n.2080C>A | ||
| NM_001193376.2:c.2022C>A | NP_001180305.1:p.Gly674= | |
| NM_198253.3:c.2022C>A MANE Select | NP_937983.2:p.Gly674= | |
| NR_149162.2:n.2101C>A | ||
| NR_149163.2:n.2101C>A | ||
| NM_001193376.3:c.2022C>A | NP_001180305.1:p.Gly674= | |
| NR_149162.3:n.2101C>A | ||
| NR_149163.3:n.2101C>A |