Linked Data
ClinVar Variation Id:
2929960
ClinVar RCV Id:
RCV003787318
dbSNP Id:
rs921594852
gnomAD v2:
2-20130318-G-A
gnomAD v3:
2-19930557-G-A
gnomAD v4:
2-19930557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19930557G>A , CM000664.2:g.19930557G>A | GRCh38 |
| NC_000002.11:g.20130318G>A , CM000664.1:g.20130318G>A | GRCh37 |
| NC_000002.10:g.19993799G>A | NCBI36 |
| NG_021212.1:g.64567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2965-5C>T MANE Select | ENSP00000281405.5:n.2965-5C>T | |
| ENST00000345530.8:c.2998-5C>T MANE Plus Clinical | ENSP00000314444.5:n.2998-5C>T | |
| ENST00000281405.8:c.2965-5C>T | ENSP00000281405.4:n.2965-5C>T | |
| ENST00000345530.7:c.2998-5C>T | ENSP00000314444.5:n.2998-5C>T | |
| ENST00000414212.5:c.*280-5C>T | ENSP00000390802.1:n.*280-5C>T | |
| ENST00000445063.5:c.2165-5C>T | ||
| NM_001006657.1:c.2998-5C>T | NP_001006658.1:n.2998-5C>T | |
| NM_020779.3:c.2965-5C>T | NP_065830.2:n.2965-5C>T | |
| XM_011533007.1:c.1693-5C>T | XP_011531309.1:n.1693-5C>T | |
| XR_426989.2:n.2898-5C>T | ||
| XM_011533007.2:c.1693-5C>T | XP_011531309.1:n.1693-5C>T | |
| XR_426989.3:n.2898-5C>T | ||
| NM_001006657.2:c.2998-5C>T MANE Plus Clinical | NP_001006658.1:n.2998-5C>T | |
| NM_020779.4:c.2965-5C>T MANE Select | NP_065830.2:n.2965-5C>T |