Linked Data
ClinVar Variation Id:
2013402
ClinVar RCV Id:
RCV002834646
dbSNP Id:
rs1211318485
gnomAD v2:
10-73767601-C-T
gnomAD v4:
10-72007843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007843C>T , CM000672.2:g.72007843C>T | GRCh38 |
| NC_000010.10:g.73767601C>T , CM000672.1:g.73767601C>T | GRCh37 |
| NC_000010.9:g.73437607C>T | NCBI36 |
| NG_012635.1:g.48482C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.812C>T MANE Select | ENSP00000362207.4:p.Ala271Val | |
| ENST00000373115.4:c.812C>T | ENSP00000362207.4:p.Ala271Val | |
| NM_004273.4:c.812C>T | NP_004264.2:p.Ala271Val | |
| XM_006718075.2:c.812C>T | XP_006718138.1:p.Ala271Val | |
| XM_011540369.1:c.812C>T | XP_011538671.1:p.Ala271Val | |
| XM_006718075.4:c.812C>T | XP_006718138.1:p.Ala271Val | |
| XM_011540369.2:c.812C>T | XP_011538671.1:p.Ala271Val | |
| NM_004273.5:c.812C>T MANE Select | NP_004264.2:p.Ala271Val |