Linked Data
ClinVar Variation Id:
1358516
ClinVar RCV Id:
RCV001878650
dbSNP Id:
rs201153804
gnomAD v4:
2-19930491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19930491G>A , CM000664.2:g.19930491G>A | GRCh38 |
| NC_000002.11:g.20130252G>A , CM000664.1:g.20130252G>A | GRCh37 |
| NC_000002.10:g.19993733G>A | NCBI36 |
| NG_021212.1:g.64633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.3026C>T MANE Select | ENSP00000281405.5:p.Thr1009Ile | |
| ENST00000345530.8:c.3059C>T MANE Plus Clinical | ENSP00000314444.5:p.Thr1020Ile | |
| ENST00000281405.8:c.3026C>T | ENSP00000281405.4:p.Thr1009Ile | |
| ENST00000345530.7:c.3059C>T | ENSP00000314444.5:p.Thr1020Ile | |
| ENST00000414212.5:c.*341C>T | ENSP00000390802.1:n.*341C>T | |
| ENST00000445063.5:c.2226C>T | ||
| NM_001006657.1:c.3059C>T | NP_001006658.1:p.Thr1020Ile | |
| NM_020779.3:c.3026C>T | NP_065830.2:p.Thr1009Ile | |
| XM_011533007.1:c.1754C>T | XP_011531309.1:p.Thr585Ile | |
| XR_426989.2:n.2959C>T | ||
| XM_011533007.2:c.1754C>T | XP_011531309.1:p.Thr585Ile | |
| XR_426989.3:n.2959C>T | ||
| NM_001006657.2:c.3059C>T MANE Plus Clinical | NP_001006658.1:p.Thr1020Ile | |
| NM_020779.4:c.3026C>T MANE Select | NP_065830.2:p.Thr1009Ile |