Linked Data
ClinVar Variation Id:
1120530
ClinVar RCV Id:
RCV001450491
dbSNP Id:
rs1386952727
gnomAD v2:
19-36338987-A-G
gnomAD v4:
19-35848085-A-G
COSMIC:
COSM6150427
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848085A>G , CM000681.2:g.35848085A>G | GRCh38 |
| NC_000019.9:g.36338987A>G , CM000681.1:g.36338987A>G | GRCh37 |
| NC_000019.8:g.41030827A>G | NCBI36 |
| NG_013356.2:g.26203T>C , LRG_693:g.26203T>C | |
| NG_051206.1:g.1451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1396T>C MANE Select | ENSP00000368190.4:p.Leu466= | |
| ENST00000353632.6:c.1396T>C | ENSP00000343634.5:p.Leu466= | |
| ENST00000378910.9:c.1396T>C | ENSP00000368190.4:p.Leu466= | |
| ENST00000592132.1:n.403T>C | ||
| NM_004646.3:c.1396T>C , LRG_693t1:c.1396T>C | NP_004637.1:p.Leu466= | |
| NM_004646.4:c.1396T>C MANE Select | NP_004637.1:p.Leu466= |