Linked Data
ClinVar Variation Id:
2934471
ClinVar RCV Id:
RCV003796221
dbSNP Id:
rs1272271498
gnomAD v2:
8-43048926-T-C
gnomAD v4:
8-43193783-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43193783T>C , CM000670.2:g.43193783T>C | GRCh38 |
| NC_000008.10:g.43048926T>C , CM000670.1:g.43048926T>C | GRCh37 |
| NC_000008.9:g.43168083T>C | NCBI36 |
| NG_009552.1:g.58335T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1404T>C MANE Select | ENSP00000368965.4:p.Tyr468= | |
| ENST00000379644.8:c.1404T>C | ENSP00000368965.4:p.Tyr468= | |
| ENST00000520678.1:n.337T>C | ||
| ENST00000521576.1:c.555T>C | ENSP00000429029.1:p.Tyr185= | |
| ENST00000524016.5:c.508T>C | ||
| NM_152419.2:c.1404T>C | NP_689632.2:p.Tyr468= | |
| XM_005273409.1:c.1404T>C | XP_005273466.1:p.Tyr468= | |
| XM_005273410.1:c.1404T>C | XP_005273467.1:p.Tyr468= | |
| XM_005273411.1:c.1212T>C | XP_005273468.1:p.Tyr404= | |
| XM_005273412.2:c.1404T>C | XP_005273469.1:p.Tyr468= | |
| NM_001363227.1:c.1404T>C | NP_001350156.1:p.Tyr468= | |
| NM_001363228.1:c.1212T>C | NP_001350157.1:p.Tyr404= | |
| NM_001363229.1:c.540T>C | NP_001350158.1:p.Tyr180= | |
| XM_005273412.4:c.1404T>C | XP_005273469.1:p.Tyr468= | |
| NM_152419.3:c.1404T>C MANE Select | NP_689632.2:p.Tyr468= | |
| NM_001363227.2:c.1404T>C | NP_001350156.1:p.Tyr468= | |
| NM_001363228.2:c.1212T>C | NP_001350157.1:p.Tyr404= | |
| NM_001363229.2:c.540T>C | NP_001350158.1:p.Tyr180= |