Linked Data
ClinVar Variation Id:
48313
ClinVar RCV Id:
RCV000041634
RCV000058813
RCV000620208
RCV001145796
RCV001145797
RCV001145798
RCV001145799
RCV001145801
RCV001145800
RCV001841616
dbSNP Id:
rs199473638
ExAC:
3:38591978 G / A
gnomAD v2:
3-38591978-G-A
gnomAD v3:
3-38550487-G-A
gnomAD v4:
3-38550487-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38550487G>A , CM000665.2:g.38550487G>A | GRCh38 |
| NC_000003.11:g.38591978G>A , CM000665.1:g.38591978G>A | GRCh37 |
| NC_000003.10:g.38566982G>A | NCBI36 |
| NG_008934.1:g.104186C>T , LRG_289:g.104186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.5882C>T | ENSP00000333674.7:p.Pro1961Leu | |
| ENST00000333535.9:c.5885C>T | ENSP00000328968.4:p.Pro1962Leu | |
| ENST00000413689.6:c.5885C>T MANE Plus Clinical | ENSP00000410257.1:p.Pro1962Leu | |
| ENST00000423572.7:c.5882C>T MANE Select | ENSP00000398266.2:p.Pro1961Leu | |
| ENST00000333535.8:c.5885C>T | ENSP00000328968.4:p.Pro1962Leu | |
| ENST00000413689.5:c.5885C>T | ENSP00000410257.1:p.Pro1962Leu | |
| ENST00000414099.6:c.5831C>T | ENSP00000398962.2:p.Pro1944Leu | |
| ENST00000423572.6:c.5882C>T | ENSP00000398266.2:p.Pro1961Leu | |
| ENST00000425664.5:c.5831C>T | ENSP00000416634.1:p.Pro1944Leu | |
| ENST00000449557.6:c.5723C>T | ENSP00000413996.2:p.Pro1908Leu | |
| ENST00000450102.6:c.5723C>T | ENSP00000403355.2:p.Pro1908Leu | |
| ENST00000451551.6:c.5723C>T | ENSP00000388797.2:p.Pro1908Leu | |
| ENST00000455624.6:c.5786C>T | ENSP00000399524.2:p.Pro1929Leu | |
| NM_000335.4:c.5882C>T , LRG_289t2:c.5882C>T | NP_000326.2:p.Pro1961Leu | |
| NM_001099404.1:c.5885C>T , LRG_289t3:c.5885C>T | NP_001092874.1:p.Pro1962Leu | |
| NM_001099405.1:c.5831C>T | NP_001092875.1:p.Pro1944Leu | |
| NM_001160160.1:c.5786C>T | NP_001153632.1:p.Pro1929Leu | |
| NM_001160161.1:c.5723C>T | NP_001153633.1:p.Pro1908Leu | |
| NM_198056.2:c.5885C>T , LRG_289t1:c.5885C>T | NP_932173.1:p.Pro1962Leu | |
| XM_006713282.2:c.5885C>T | XP_006713345.1:p.Pro1962Leu | |
| XM_011533991.1:c.5882C>T | XP_011532293.1:p.Pro1961Leu | |
| XM_011533992.1:c.5756C>T | XP_011532294.1:p.Pro1919Leu | |
| NM_001354701.1:c.5828C>T | NP_001341630.1:p.Pro1943Leu | |
| XM_011533991.2:c.5882C>T | XP_011532293.1:p.Pro1961Leu | |
| XM_017007017.1:c.5723C>T | XP_016862506.1:p.Pro1908Leu | |
| NM_000335.5:c.5882C>T MANE Select | NP_000326.2:p.Pro1961Leu | |
| NM_001160160.2:c.5786C>T | NP_001153632.1:p.Pro1929Leu | |
| NM_001354701.2:c.5828C>T | NP_001341630.1:p.Pro1943Leu | |
| NM_001099404.2:c.5885C>T MANE Plus Clinical | NP_001092874.1:p.Pro1962Leu | |
| NM_001099405.2:c.5831C>T | NP_001092875.1:p.Pro1944Leu | |
| NM_001160161.2:c.5723C>T | NP_001153633.1:p.Pro1908Leu | |
| NM_198056.3:c.5885C>T | NP_932173.1:p.Pro1962Leu |