Linked Data
ClinVar Variation Id:
2938931
ClinVar RCV Id:
RCV003791657
MyVariant Identifiers:
chr19:g.13183868A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13073054A>G , CM000681.2:g.13073054A>G | GRCh38 |
| NC_000019.9:g.13183868A>G , CM000681.1:g.13183868A>G | GRCh37 |
| NC_000019.8:g.13044868A>G | NCBI36 |
| NG_032925.2:g.82285A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358552.8:c.564A>G | ENSP00000351354.5:p.Gly188= | |
| ENST00000622520.2:c.564A>G | ENSP00000481181.2:p.Gly188= | |
| ENST00000693124.1:c.385A>G | ||
| ENST00000592199.6:c.567A>G MANE Select | ENSP00000467512.1:p.Gly189= | |
| ENST00000676441.1:c.591A>G | ENSP00000502554.1:p.Gly197= | |
| ENST00000358552.7:c.576A>G | ENSP00000351354.4:p.Gly192= | |
| ENST00000360105.8:c.576A>G | ENSP00000353219.4:p.Gly192= | |
| ENST00000397661.6:c.567A>G | ENSP00000380781.2:p.Gly189= | |
| ENST00000585382.5:c.242A>G | ENSP00000466605.1:p.Asp81Gly | |
| ENST00000585575.5:c.543A>G | ENSP00000468794.1:p.Gly181= | |
| ENST00000586797.5:c.*398A>G | ENSP00000467536.1:n.*398A>G | |
| ENST00000587260.1:c.564A>G | ENSP00000467785.1:p.Gly188= | |
| ENST00000587760.5:c.543A>G | ENSP00000466389.1:p.Gly181= | |
| ENST00000588228.5:c.426A>G | ENSP00000466735.1:p.Gly142= | |
| ENST00000588680.1:n.75A>G | ||
| ENST00000592199.5:c.567A>G | ENSP00000467512.1:p.Gly189= | |
| NM_001271043.2:c.591A>G | NP_001257972.1:p.Gly197= | |
| NM_001271044.2:c.543A>G | NP_001257973.1:p.Gly181= | |
| NM_002501.3:c.567A>G | NP_002492.2:p.Gly189= | |
| XM_005259917.3:c.744A>G | XP_005259974.1:p.Gly248= | |
| XM_005259918.3:c.567A>G | XP_005259975.1:p.Gly189= | |
| XM_005259919.3:c.744A>G | XP_005259976.1:p.Gly248= | |
| XM_005259920.3:c.543A>G | XP_005259977.1:p.Gly181= | |
| XM_005259921.3:c.744A>G | XP_005259978.1:p.Gly248= | |
| XM_005259922.3:c.744A>G | XP_005259979.1:p.Gly248= | |
| XM_006722760.2:c.744A>G | XP_006722823.1:p.Gly248= | |
| XM_011528040.1:c.615A>G | XP_011526342.1:p.Gly205= | |
| NM_001365902.1:c.567A>G | NP_001352831.1:p.Gly189= | |
| NM_001365982.1:c.567A>G | NP_001352911.1:p.Gly189= | |
| NM_001365983.1:c.426A>G | NP_001352912.1:p.Gly142= | |
| NM_001365984.1:c.564A>G | NP_001352913.1:p.Gly188= | |
| NM_001365985.1:c.564A>G | NP_001352914.1:p.Gly188= | |
| XM_005259917.4:c.744A>G | XP_005259974.1:p.Gly248= | |
| NM_001271044.3:c.543A>G | NP_001257973.1:p.Gly181= | |
| NM_001365902.2:c.567A>G | NP_001352831.1:p.Gly189= | |
| NM_001365982.2:c.567A>G | NP_001352911.1:p.Gly189= | |
| NM_001365983.2:c.426A>G | NP_001352912.1:p.Gly142= | |
| NM_001365984.2:c.564A>G | NP_001352913.1:p.Gly188= | |
| NM_001365985.2:c.564A>G | NP_001352914.1:p.Gly188= | |
| NM_002501.4:c.567A>G | NP_002492.2:p.Gly189= | |
| NM_001365902.3:c.567A>G MANE Select | NP_001352831.1:p.Gly189= | |
| NM_001378404.1:c.543A>G | NP_001365333.1:p.Gly181= | |
| NM_001378405.1:c.615A>G | NP_001365334.1:p.Gly205= |