Linked Data
ClinVar Variation Id:
438040
ClinVar RCV Id:
RCV000504928
dbSNP Id:
rs1553722736
gnomAD v4:
3-121828473-A-C
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121828473A>C , CM000665.2:g.121828473A>C | GRCh38 |
| NC_000003.11:g.121547320A>C , CM000665.1:g.121547320A>C | GRCh37 |
| NC_000003.10:g.123030010A>C | NCBI36 |
| NG_015887.1:g.11607T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.260T>G MANE Select | ENSP00000311505.6:p.Leu87Ter | |
| ENST00000310864.10:c.260T>G | ENSP00000311505.6:p.Leu87Ter | |
| ENST00000349820.10:c.260T>G | ENSP00000323756.7:p.Leu87Ter | |
| ENST00000393650.7:c.260T>G | ENSP00000377261.3:p.Leu87Ter | |
| ENST00000460108.5:c.-290+388T>G | ENSP00000419168.1:n.-290+388T>G | |
| ENST00000462442.1:c.260T>G | ENSP00000419376.1:p.Leu87Ter | |
| ENST00000498104.1:c.-196+388T>G | ENSP00000417832.1:n.-196+388T>G | |
| NM_001023570.2:c.260T>G | NP_001018864.2:p.Leu87Ter | |
| NM_001023571.2:c.260T>G | NP_001018865.2:p.Leu87Ter | |
| XM_005247911.2:c.260T>G | XP_005247968.1:p.Leu87Ter | |
| XM_005247912.1:c.-290+388T>G | XP_005247969.1:n.-290+388T>G | |
| XM_005247913.1:c.260T>G | XP_005247970.1:p.Leu87Ter | |
| XM_011513335.1:c.-196+388T>G | XP_011511637.1:n.-196+388T>G | |
| XR_924221.1:n.387T>G | ||
| NM_001023570.3:c.260T>G | NP_001018864.2:p.Leu87Ter | |
| NM_001023571.3:c.260T>G | NP_001018865.2:p.Leu87Ter | |
| NM_001319107.1:c.260T>G | NP_001306036.1:p.Leu87Ter | |
| NR_134968.1:n.474T>G | ||
| XM_005247911.4:c.260T>G | XP_005247968.1:p.Leu87Ter | |
| XM_005247912.3:c.-290+388T>G | XP_005247969.1:n.-290+388T>G | |
| XM_011513335.3:c.-196+388T>G | XP_011511637.1:n.-196+388T>G | |
| XM_017007537.2:c.-199T>G | XP_016863026.1:n.-199T>G | |
| XM_017007539.2:c.260T>G | XP_016863028.1:p.Leu87Ter | |
| XM_024453833.1:c.-647T>G | XP_024309601.1:n.-647T>G | |
| XM_024453834.1:c.-644+388T>G | XP_024309602.1:n.-644+388T>G | |
| XR_001740376.2:n.388T>G | ||
| XR_001740377.2:n.388T>G | ||
| XR_001740378.2:n.388T>G | ||
| XR_001740379.2:n.388T>G | ||
| XR_001740380.2:n.388T>G | ||
| XR_001740381.2:n.388T>G | ||
| NM_001023570.4:c.260T>G MANE Select | NP_001018864.2:p.Leu87Ter | |
| NM_001023571.4:c.260T>G | NP_001018865.2:p.Leu87Ter | |
| NM_001319107.2:c.260T>G | NP_001306036.1:p.Leu87Ter | |
| NR_134968.2:n.455T>G |