Linked Data
ClinVar Variation Id:
16791
ClinVar RCV Id:
RCV000018282
dbSNP Id:
rs121913025
gnomAD v4:
19-45357295-A-G
PubMed:
PMID:11709541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45357295A>G , CM000681.2:g.45357295A>G | GRCh38 |
| NC_000019.9:g.45860553A>G , CM000681.1:g.45860553A>G | GRCh37 |
| NC_000019.8:g.50552393A>G | NCBI36 |
| NG_007067.2:g.18293T>C , LRG_461:g.18293T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.1454T>C | ENSP00000375808.4:p.Leu485Pro | |
| ENST00000682414.1:c.1454T>C | ENSP00000507019.1:p.Leu485Pro | |
| ENST00000682508.1:n.1483T>C | ||
| ENST00000684218.1:c.*712T>C | ENSP00000507804.1:n.*712T>C | |
| ENST00000684264.1:n.1010T>C | ||
| ENST00000684407.1:c.1331T>C | ENSP00000507775.1:p.Leu444Pro | |
| ENST00000684458.1:c.*4T>C | ENSP00000508260.1:n.*4T>C | |
| ENST00000684468.1:n.1230T>C | ||
| ENST00000391945.10:c.1454T>C MANE Select | ENSP00000375809.4:p.Leu485Pro | |
| ENST00000587376.6:c.577T>C | ||
| ENST00000646507.1:n.1551T>C | ||
| ENST00000391941.6:c.1382T>C | ENSP00000375805.2:p.Leu461Pro | |
| ENST00000391942.6:n.625T>C | ||
| ENST00000391944.7:c.1220T>C | ENSP00000375808.3:p.Leu407Pro | |
| ENST00000391945.8:c.1454T>C | ENSP00000375809.3:p.Leu485Pro | |
| ENST00000587376.5:c.577T>C | ||
| ENST00000588652.5:n.1542T>C | ||
| NM_000400.3:c.1454T>C , LRG_461t1:c.1454T>C | NP_000391.1:p.Leu485Pro | |
| XM_011526611.1:c.1376T>C | XP_011524913.1:p.Leu459Pro | |
| XR_935763.1:n.1501T>C | ||
| XM_011526611.2:c.1376T>C | XP_011524913.1:p.Leu459Pro | |
| XM_017026467.1:c.1331T>C | XP_016881956.1:p.Leu444Pro | |
| XR_001753633.2:n.1501T>C | ||
| XR_001753634.2:n.1501T>C | ||
| NM_000400.4:c.1454T>C MANE Select | NP_000391.1:p.Leu485Pro |