Linked Data
ClinVar Variation Id:
437385
ClinVar RCV Id:
RCV000502132
dbSNP Id:
rs1021674497
gnomAD v2:
19-42728554-C-T
gnomAD v3:
19-42224402-C-T
gnomAD v4:
19-42224402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42224402C>T , CM000681.2:g.42224402C>T | GRCh38 |
| NC_000019.9:g.42728554C>T , CM000681.1:g.42728554C>T | GRCh37 |
| NC_000019.8:g.47420394C>T | NCBI36 |
| NG_053183.1:g.9132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710326.1:c.-2C>T | ENSP00000518206.1:n.-2C>T | |
| ENST00000301215.8:c.-2C>T MANE Select | ENSP00000301215.2:n.-2C>T | |
| ENST00000678490.1:c.93+7655G>A | ||
| ENST00000301215.7:c.-2C>T | ENSP00000301215.2:n.-2C>T | |
| ENST00000597945.1:c.-2C>T | ENSP00000473075.1:n.-2C>T | |
| NM_001314033.1:c.-2C>T | NP_001300962.1:n.-2C>T | |
| NM_133444.1:c.-2C>T | NP_597701.1:n.-2C>T | |
| NM_133444.2:c.-2C>T | NP_597701.1:n.-2C>T | |
| NM_001314033.2:c.-2C>T | NP_001300962.1:n.-2C>T | |
| NM_001314033.3:c.-2C>T | NP_001300962.1:n.-2C>T | |
| NM_133444.3:c.-2C>T MANE Select | NP_597701.1:n.-2C>T |