Linked Data
gnomAD v4:
19-34400015-G-A
COSMIC:
COSM2751830
MyVariant Identifiers:
chr19:g.34890920G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.34400015G>A , CM000681.2:g.34400015G>A | GRCh38 |
| NC_000019.9:g.34890920G>A , CM000681.1:g.34890920G>A | GRCh37 |
| NC_000019.8:g.39582760G>A | NCBI36 |
| NG_012838.2:g.40276G>A | |
| NG_012838.3:g.45424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356487.11:c.1656G>A MANE Select | ENSP00000348877.3:p.Gln552= | |
| ENST00000415930.8:c.1773G>A | ENSP00000405573.3:p.Gln591= | |
| ENST00000586425.2:c.1322G>A | ||
| ENST00000588991.7:c.1689G>A | ENSP00000465858.3:p.Gln563= | |
| ENST00000643067.1:n.2701G>A | ||
| ENST00000647446.1:c.*707G>A | ENSP00000495129.1:n.*707G>A | |
| ENST00000356487.9:c.1656G>A | ENSP00000348877.3:p.Gln552= | |
| ENST00000415930.7:c.1689G>A | ENSP00000405573.2:p.Gln563= | |
| ENST00000586077.1:n.2733G>A | ||
| ENST00000586392.1:n.1394G>A | ||
| ENST00000586425.1:c.*88G>A | ENSP00000467670.2:n.*88G>A | |
| ENST00000588991.6:c.1701G>A | ENSP00000465858.2:p.Gln567= | |
| ENST00000592740.5:c.193+3358G>A | ||
| NM_000175.3:c.1656G>A | NP_000166.2:p.Gln552= | |
| NM_001184722.1:c.1689G>A | NP_001171651.1:p.Gln563= | |
| NM_001289789.1:c.1773G>A | NP_001276718.1:p.Gln591= | |
| NM_001289790.1:c.1572G>A | NP_001276719.1:p.Gln524= | |
| XM_005258764.1:c.1656G>A | XP_005258821.1:p.Gln552= | |
| XM_006723148.1:c.1656G>A | XP_006723211.1:p.Gln552= | |
| XM_011526754.1:c.1773G>A | XP_011525056.1:p.Gln591= | |
| NM_000175.5:c.1656G>A MANE Select | NP_000166.2:p.Gln552= | |
| NM_001289790.2:c.1572G>A | NP_001276719.1:p.Gln524= | |
| NM_001329909.1:c.1656G>A | NP_001316838.1:p.Gln552= | |
| NM_001329910.1:c.1656G>A | NP_001316839.1:p.Gln552= | |
| NM_001329911.1:c.1629G>A | NP_001316840.1:p.Gln543= | |
| XM_011526754.3:c.1773G>A | XP_011525056.1:p.Gln591= | |
| NM_001289790.3:c.1572G>A | NP_001276719.1:p.Gln524= | |
| NM_001329911.2:c.1629G>A | NP_001316840.1:p.Gln543= |