Linked Data
ClinVar Variation Id:
4329
dbSNP Id:
rs80356763
gnomAD v2:
1-155208387-C-A
gnomAD v4:
1-155238596-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155238596C>A , CM000663.2:g.155238596C>A | GRCh38 |
| NC_000001.10:g.155208387C>A , CM000663.1:g.155208387C>A | GRCh37 |
| NC_000001.9:g.153475011C>A | NCBI36 |
| NG_009783.1:g.11102G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.509G>T MANE Select | ENSP00000357357.3:p.Arg170Leu | |
| ENST00000327247.9:c.509G>T | ENSP00000314508.5:p.Arg170Leu | |
| ENST00000368373.7:c.509G>T | ENSP00000357357.3:p.Arg170Leu | |
| ENST00000427500.7:c.362G>T | ENSP00000402577.2:p.Arg121Leu | |
| ENST00000428024.3:c.248G>T | ENSP00000397986.2:p.Arg83Leu | |
| ENST00000460156.1:n.296G>T | ||
| ENST00000473570.5:n.830G>T | ||
| ENST00000484489.5:n.339+1377G>T | ||
| ENST00000491081.5:n.114G>T | ||
| ENST00000493842.5:n.847G>T | ||
| ENST00000497670.5:n.132G>T | ||
| NM_000157.3:c.509G>T | NP_000148.2:p.Arg170Leu | |
| NM_001005741.2:c.509G>T | NP_001005741.1:p.Arg170Leu | |
| NM_001005742.2:c.509G>T | NP_001005742.1:p.Arg170Leu | |
| NM_001171811.1:c.248G>T | NP_001165282.1:p.Arg83Leu | |
| NM_001171812.1:c.362G>T | NP_001165283.1:p.Arg121Leu | |
| XM_006711270.1:c.509G>T | XP_006711333.1:p.Arg170Leu | |
| XM_011509407.1:c.509G>T | XP_011507709.1:p.Arg170Leu | |
| NM_000157.4:c.509G>T MANE Select | NP_000148.2:p.Arg170Leu | |
| NM_001005741.3:c.509G>T | NP_001005741.1:p.Arg170Leu | |
| NM_001005742.3:c.509G>T | NP_001005742.1:p.Arg170Leu | |
| NM_001171811.2:c.248G>T | NP_001165282.1:p.Arg83Leu | |
| NM_001171812.2:c.362G>T | NP_001165283.1:p.Arg121Leu |