Linked Data
ClinVar Variation Id:
371159
ClinVar RCV Id:
RCV000410346
dbSNP Id:
rs1054950770
gnomAD v2:
19-36342162-A-G
gnomAD v3:
19-35851260-A-G
gnomAD v4:
19-35851260-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35851260A>G , CM000681.2:g.35851260A>G | GRCh38 |
| NC_000019.9:g.36342162A>G , CM000681.1:g.36342162A>G | GRCh37 |
| NC_000019.8:g.41034002A>G | NCBI36 |
| NG_013356.2:g.23028T>C , LRG_693:g.23028T>C | |
| NG_051206.1:g.4626A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.397+2T>C MANE Select | ENSP00000368190.4:n.397+2T>C | |
| ENST00000353632.6:c.397+2T>C | ENSP00000343634.5:n.397+2T>C | |
| ENST00000378910.9:c.397+2T>C | ENSP00000368190.4:n.397+2T>C | |
| NM_004646.3:c.397+2T>C , LRG_693t1:c.397+2T>C | NP_004637.1:n.397+2T>C | |
| NM_004646.4:c.397+2T>C MANE Select | NP_004637.1:n.397+2T>C |