Linked Data
ClinVar Variation Id:
402187
ClinVar RCV Id:
RCV000454321
dbSNP Id:
rs146732064
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108014518G>T , CM000666.2:g.108014518G>T | GRCh38 |
| NC_000004.11:g.108935674G>T , CM000666.1:g.108935674G>T | GRCh37 |
| NC_000004.10:g.109155123G>T | NCBI36 |
| NG_008156.2:g.29735G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507260.3:n.435G>T | ||
| ENST00000626637.2:c.361G>T | ENSP00000486771.1:p.Val121Leu | |
| ENST00000638648.2:c.361G>T | ENSP00000507949.1:p.Val121Leu | |
| ENST00000640201.2:n.435G>T | ||
| ENST00000640752.2:n.435G>T | ||
| ENST00000681992.1:n.386G>T | ||
| ENST00000682067.1:c.309G>T | ||
| ENST00000682197.1:n.433G>T | ||
| ENST00000682373.1:c.205+4631G>T | ||
| ENST00000684696.1:c.349G>T | ENSP00000507675.1:p.Val117Leu | |
| ENST00000309522.8:c.349G>T MANE Select | ENSP00000312288.4:p.Val117Leu | |
| ENST00000403312.6:c.349G>T | ENSP00000385638.3:p.Val117Leu | |
| ENST00000505878.4:c.526G>T | ENSP00000425952.2:p.Val176Leu | |
| ENST00000507260.2:n.392G>T | ||
| ENST00000638559.1:c.207G>T | ||
| ENST00000638621.1:c.133-8956G>T | ENSP00000491581.1:n.133-8956G>T | |
| ENST00000638648.1:n.500G>T | ||
| ENST00000639146.1:c.349G>T | ENSP00000492345.1:p.Val117Leu | |
| ENST00000639335.1:c.349G>T | ENSP00000491310.1:p.Val117Leu | |
| ENST00000639698.1:c.229G>T | ENSP00000492420.1:p.Val77Leu | |
| ENST00000639784.1:c.213G>T | ||
| ENST00000640048.1:c.187G>T | ENSP00000492009.1:p.Val63Leu | |
| ENST00000640060.1:c.*444G>T | ENSP00000492734.1:n.*444G>T | |
| ENST00000640201.1:n.304G>T | ||
| ENST00000640586.1:c.638G>T | ||
| ENST00000640752.1:n.428G>T | ||
| ENST00000309522.7:c.349G>T | ENSP00000312288.3:p.Val117Leu | |
| ENST00000403312.5:c.526G>T | ENSP00000385638.2:p.Val176Leu | |
| ENST00000505878.3:c.361G>T | ENSP00000425952.1:p.Val121Leu | |
| ENST00000507260.1:n.49G>T | ||
| ENST00000603302.5:c.349G>T | ENSP00000474560.1:p.Val117Leu | |
| ENST00000626637.1:c.361G>T | ENSP00000486771.1:p.Val121Leu | |
| NM_001184705.2:c.349G>T | NP_001171634.2:p.Val117Leu | |
| NM_005327.4:c.349G>T | NP_005318.3:p.Val117Leu | |
| XM_005262972.1:c.361G>T | XP_005263029.1:p.Val121Leu | |
| XR_938726.1:n.498G>T | ||
| NM_001331027.1:c.361G>T | NP_001317956.1:p.Val121Leu | |
| XR_001741214.2:n.443G>T | ||
| XR_002959727.1:n.443G>T | ||
| NM_001184705.3:c.349G>T | NP_001171634.2:p.Val117Leu | |
| NM_005327.7:c.349G>T MANE Select | NP_005318.6:p.Val117Leu | |
| NM_001184705.4:c.349G>T | NP_001171634.3:p.Val117Leu | |
| NM_001331027.2:c.361G>T | NP_001317956.2:p.Val121Leu |