Linked Data
ClinVar Variation Id:
2421404
ClinVar RCV Id:
RCV003113064
dbSNP Id:
rs911399847
gnomAD v2:
4-108948912-A-C
gnomAD v4:
4-108027756-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108027756A>C , CM000666.2:g.108027756A>C | GRCh38 |
| NC_000004.11:g.108948912A>C , CM000666.1:g.108948912A>C | GRCh37 |
| NC_000004.10:g.109168361A>C | NCBI36 |
| NG_008156.2:g.42973A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507260.3:n.4915A>C | ||
| ENST00000510728.6:n.1693A>C | ||
| ENST00000514776.3:n.138A>C | ||
| ENST00000515462.7:n.1892A>C | ||
| ENST00000626637.2:c.717A>C | ENSP00000486771.1:p.Glu239Asp | |
| ENST00000638648.2:c.717A>C | ENSP00000507949.1:p.Glu239Asp | |
| ENST00000640201.2:n.791A>C | ||
| ENST00000640752.2:n.4915A>C | ||
| ENST00000682067.1:c.538A>C | ||
| ENST00000682086.1:n.774A>C | ||
| ENST00000682373.1:c.364A>C | ||
| ENST00000684696.1:c.637-183A>C | ENSP00000507675.1:n.637-183A>C | |
| ENST00000309522.8:c.705A>C MANE Select | ENSP00000312288.4:p.Glu235Asp | |
| ENST00000403312.6:c.705A>C | ENSP00000385638.3:p.Glu235Asp | |
| ENST00000505878.4:c.882A>C | ENSP00000425952.2:p.Glu294Asp | |
| ENST00000514776.2:n.138A>C | ||
| ENST00000515462.6:n.1892A>C | ||
| ENST00000638559.1:c.563A>C | ||
| ENST00000638621.1:c.291A>C | ENSP00000491581.1:p.Glu97Asp | |
| ENST00000638648.1:n.856A>C | ||
| ENST00000639146.1:c.705A>C | ENSP00000492345.1:p.Glu235Asp | |
| ENST00000639335.1:c.*140A>C | ENSP00000491310.1:n.*140A>C | |
| ENST00000639698.1:c.516+4193A>C | ENSP00000492420.1:n.516+4193A>C | |
| ENST00000639784.1:c.373+4193A>C | ||
| ENST00000640048.1:c.677A>C | ENSP00000492009.1:n.677A>C | |
| ENST00000640060.1:c.*800A>C | ENSP00000492734.1:n.*800A>C | |
| ENST00000640201.1:n.660A>C | ||
| ENST00000640752.1:n.4908A>C | ||
| ENST00000309522.7:c.705A>C | ENSP00000312288.3:p.Glu235Asp | |
| ENST00000403312.5:c.882A>C | ENSP00000385638.2:p.Glu294Asp | |
| ENST00000505878.3:c.717A>C | ENSP00000425952.1:p.Glu239Asp | |
| ENST00000507260.1:n.405A>C | ||
| ENST00000510728.5:n.245A>C | ||
| ENST00000515462.5:n.42A>C | ||
| ENST00000603302.5:c.705A>C | ENSP00000474560.1:p.Glu235Asp | |
| ENST00000626637.1:c.717A>C | ENSP00000486771.1:p.Glu239Asp | |
| NM_001184705.2:c.705A>C | NP_001171634.2:p.Glu235Asp | |
| NM_005327.4:c.705A>C | NP_005318.3:p.Glu235Asp | |
| XM_005262972.1:c.717A>C | XP_005263029.1:p.Glu239Asp | |
| XR_938726.1:n.854A>C | ||
| NM_001331027.1:c.717A>C | NP_001317956.1:p.Glu239Asp | |
| XR_001741214.2:n.799A>C | ||
| XR_002959727.1:n.799A>C | ||
| NM_001184705.3:c.705A>C | NP_001171634.2:p.Glu235Asp | |
| NM_005327.7:c.705A>C MANE Select | NP_005318.6:p.Glu235Asp | |
| NM_001184705.4:c.705A>C | NP_001171634.3:p.Glu235Asp | |
| NM_001331027.2:c.717A>C | NP_001317956.2:p.Glu239Asp |