Linked Data
ClinVar Variation Id:
2937060
ClinVar RCV Id:
RCV003791250
dbSNP Id:
rs1804620479
gnomAD v4:
8-43193795-C-T
MyVariant Identifiers:
chr8:g.43048938C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43193795C>T , CM000670.2:g.43193795C>T | GRCh38 |
| NC_000008.10:g.43048938C>T , CM000670.1:g.43048938C>T | GRCh37 |
| NC_000008.9:g.43168095C>T | NCBI36 |
| NG_009552.1:g.58347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1416C>T MANE Select | ENSP00000368965.4:p.Gly472= | |
| ENST00000379644.8:c.1416C>T | ENSP00000368965.4:p.Gly472= | |
| ENST00000520678.1:n.349C>T | ||
| ENST00000521576.1:c.567C>T | ENSP00000429029.1:p.Gly189= | |
| ENST00000524016.5:c.520C>T | ||
| NM_152419.2:c.1416C>T | NP_689632.2:p.Gly472= | |
| XM_005273409.1:c.1416C>T | XP_005273466.1:p.Gly472= | |
| XM_005273410.1:c.1416C>T | XP_005273467.1:p.Gly472= | |
| XM_005273411.1:c.1224C>T | XP_005273468.1:p.Gly408= | |
| XM_005273412.2:c.1416C>T | XP_005273469.1:p.Gly472= | |
| NM_001363227.1:c.1416C>T | NP_001350156.1:p.Gly472= | |
| NM_001363228.1:c.1224C>T | NP_001350157.1:p.Gly408= | |
| NM_001363229.1:c.552C>T | NP_001350158.1:p.Gly184= | |
| XM_005273412.4:c.1416C>T | XP_005273469.1:p.Gly472= | |
| NM_152419.3:c.1416C>T MANE Select | NP_689632.2:p.Gly472= | |
| NM_001363227.2:c.1416C>T | NP_001350156.1:p.Gly472= | |
| NM_001363228.2:c.1224C>T | NP_001350157.1:p.Gly408= | |
| NM_001363229.2:c.552C>T | NP_001350158.1:p.Gly184= |