Linked Data
ClinVar Variation Id:
2232208
ClinVar RCV Id:
RCV002727918
dbSNP Id:
rs758031412
ExAC:
7:100225204 A / G
gnomAD v2:
7-100225204-A-G
gnomAD v4:
7-100627581-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100627581A>G , CM000669.2:g.100627581A>G | GRCh38 |
| NC_000007.13:g.100225204A>G , CM000669.1:g.100225204A>G | GRCh37 |
| NC_000007.12:g.100063140A>G | NCBI36 |
| NG_007989.1:g.18970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.1763T>C MANE Select | ENSP00000223051.3:p.Met588Thr | |
| ENST00000223051.7:c.1763T>C | ENSP00000223051.3:p.Met588Thr | |
| ENST00000431692.5:c.*438T>C | ENSP00000413905.1:n.*438T>C | |
| ENST00000461176.1:n.24T>C | ||
| ENST00000462090.5:n.714T>C | ||
| ENST00000462107.1:c.1763T>C | ENSP00000420525.1:p.Met588Thr | |
| ENST00000465294.5:n.1598T>C | ||
| ENST00000473374.5:n.836T>C | ||
| ENST00000476304.5:n.1384T>C | ||
| ENST00000490084.5:c.1116T>C | ||
| NM_001206855.1:c.1250T>C | NP_001193784.1:p.Met417Thr | |
| NM_003227.3:c.1763T>C | NP_003218.2:p.Met588Thr | |
| XM_005250553.3:c.1763T>C | XP_005250610.1:p.Met588Thr | |
| XM_005250554.3:c.1763T>C | XP_005250611.1:p.Met588Thr | |
| XR_927814.1:n.434-3575A>G | ||
| NM_001206855.2:c.1250T>C | NP_001193784.1:p.Met417Thr | |
| XM_005250553.4:c.1763T>C | XP_005250610.1:p.Met588Thr | |
| XM_017012573.1:c.1763T>C | XP_016868062.1:p.Met588Thr | |
| NM_003227.4:c.1763T>C MANE Select | NP_003218.2:p.Met588Thr | |
| NM_001206855.3:c.1250T>C | NP_001193784.1:p.Met417Thr |