Linked Data
ClinVar Variation Id:
167162
ClinVar RCV Id:
RCV000153344
dbSNP Id:
rs4956145
ExAC:
4:108931039 T / C
gnomAD v2:
4-108931039-T-C
gnomAD v3:
4-108009883-T-C
gnomAD v4:
4-108009883-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108009883T>C , CM000666.2:g.108009883T>C | GRCh38 |
| NC_000004.11:g.108931039T>C , CM000666.1:g.108931039T>C | GRCh37 |
| NC_000004.10:g.109150488T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507260.3:n.343T>C | ||
| ENST00000626637.2:c.269T>C | ENSP00000486771.1:p.Leu90Pro | |
| ENST00000638648.2:c.269T>C | ENSP00000507949.1:p.Leu90Pro | |
| ENST00000640201.2:n.343T>C | ||
| ENST00000640752.2:n.343T>C | ||
| ENST00000681992.1:n.294T>C | ||
| ENST00000682067.1:c.217T>C | ||
| ENST00000682197.1:n.341T>C | ||
| ENST00000682373.1:c.201T>C | ||
| ENST00000684696.1:c.257T>C | ENSP00000507675.1:p.Leu86Pro | |
| ENST00000309522.8:c.257T>C MANE Select | ENSP00000312288.4:p.Leu86Pro | |
| ENST00000403312.6:c.257T>C | ENSP00000385638.3:p.Leu86Pro | |
| ENST00000505878.4:c.434T>C | ENSP00000425952.2:p.Leu145Pro | |
| ENST00000507260.2:n.300T>C | ||
| ENST00000638559.1:c.120-4548T>C | ||
| ENST00000638621.1:c.133-13591T>C | ENSP00000491581.1:n.133-13591T>C | |
| ENST00000638648.1:n.408T>C | ||
| ENST00000639146.1:c.257T>C | ENSP00000492345.1:p.Leu86Pro | |
| ENST00000639335.1:c.257T>C | ENSP00000491310.1:p.Leu86Pro | |
| ENST00000639698.1:c.137T>C | ENSP00000492420.1:p.Leu46Pro | |
| ENST00000639784.1:c.121T>C | ||
| ENST00000640048.1:c.95T>C | ENSP00000492009.1:p.Leu32Pro | |
| ENST00000640060.1:c.*352T>C | ENSP00000492734.1:n.*352T>C | |
| ENST00000640201.1:n.212T>C | ||
| ENST00000640586.1:c.546T>C | ||
| ENST00000640752.1:n.336T>C | ||
| ENST00000309522.7:c.257T>C | ENSP00000312288.3:p.Leu86Pro | |
| ENST00000403312.5:c.434T>C | ENSP00000385638.2:p.Leu145Pro | |
| ENST00000505878.3:c.269T>C | ENSP00000425952.1:p.Leu90Pro | |
| ENST00000603302.5:c.257T>C | ENSP00000474560.1:p.Leu86Pro | |
| ENST00000626637.1:c.269T>C | ENSP00000486771.1:p.Leu90Pro | |
| XM_005262972.1:c.269T>C | XP_005263029.1:p.Leu90Pro | |
| XR_938726.1:n.406T>C | ||
| XR_001741214.2:n.351T>C | ||
| XR_002959727.1:n.351T>C | ||
| NM_005327.7:c.257T>C MANE Select | NP_005318.6:p.Leu86Pro | |
| NM_001184705.4:c.257T>C | NP_001171634.3:p.Leu86Pro | |
| NM_001331027.2:c.269T>C | NP_001317956.2:p.Leu90Pro |