Linked Data
ClinVar Variation Id:
1190372
ClinVar RCV Id:
RCV001551065
dbSNP Id:
rs281865102
gnomAD v4:
11-18292011-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18292011A>G , CM000673.2:g.18292011A>G | GRCh38 |
| NC_000011.9:g.18313558A>G , CM000673.1:g.18313558A>G | GRCh37 |
| NC_000011.8:g.18270134A>G | NCBI36 |
| NG_008877.1:g.35164T>C , LRG_586:g.35164T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349215.8:c.1871T>C MANE Select | ENSP00000265967.5:p.Leu624Pro | |
| ENST00000349215.7:c.1871T>C | ENSP00000265967.5:p.Leu624Pro | |
| ENST00000352460.7:n.262T>C | ||
| ENST00000396253.7:c.1529T>C | ENSP00000379552.3:p.Leu510Pro | |
| ENST00000438420.6:c.1529T>C | ENSP00000399590.2:p.Leu510Pro | |
| ENST00000543728.1:n.197+3009T>C | ||
| ENST00000544218.5:c.-3+888T>C | ENSP00000441781.1:n.-3+888T>C | |
| NM_007216.3:c.1529T>C | NP_009147.3:p.Leu510Pro | |
| NM_181507.1:c.1871T>C , LRG_586t1:c.1871T>C | NP_852608.1:p.Leu624Pro | |
| NM_181508.1:c.1529T>C | NP_852609.1:p.Leu510Pro | |
| XM_011519862.1:c.1871T>C | XP_011518164.1:p.Leu624Pro | |
| XM_011519863.1:c.1871T>C | XP_011518165.1:p.Leu624Pro | |
| XM_011519864.1:c.1871T>C | XP_011518166.1:p.Leu624Pro | |
| XM_011519865.1:c.1760T>C | XP_011518167.1:p.Leu587Pro | |
| XM_011519866.1:c.1529T>C | XP_011518168.1:p.Leu510Pro | |
| XM_011519867.1:c.1529T>C | XP_011518169.1:p.Leu510Pro | |
| XM_011519868.1:c.1529T>C | XP_011518170.1:p.Leu510Pro | |
| XM_011519869.1:c.1871T>C | XP_011518171.1:p.Leu624Pro | |
| XM_011519870.1:c.1862+888T>C | XP_011518172.1:n.1862+888T>C | |
| XM_011519871.1:c.1784+3009T>C | XP_011518173.1:n.1784+3009T>C | |
| XM_011519868.3:c.1529T>C | XP_011518170.1:p.Leu510Pro | |
| XM_017017149.1:c.1871T>C | XP_016872638.1:p.Leu624Pro | |
| XM_017017150.1:c.1871T>C | XP_016872639.1:p.Leu624Pro | |
| XM_017017151.2:c.1760T>C | XP_016872640.1:p.Leu587Pro | |
| XM_017017152.1:c.1760T>C | XP_016872641.1:p.Leu587Pro | |
| XM_017017153.2:c.1760T>C | XP_016872642.1:p.Leu587Pro | |
| XM_017017154.1:c.1529T>C | XP_016872643.1:p.Leu510Pro | |
| XR_001747750.1:n.2140T>C | ||
| XR_001747751.1:n.2140T>C | ||
| XR_001747752.1:n.1896T>C | ||
| XR_001747753.1:n.2013T>C | ||
| XR_001747754.2:n.2106+888T>C | ||
| XR_001747755.2:n.2028+3009T>C | ||
| XR_001747756.2:n.2041+3009T>C | ||
| NM_007216.4:c.1529T>C | NP_009147.3:p.Leu510Pro | |
| NM_181507.2:c.1871T>C MANE Select | NP_852608.1:p.Leu624Pro |