Linked Data
ClinVar Variation Id:
1360573
ClinVar RCV Id:
RCV001872532
dbSNP Id:
rs2128527296
gnomAD v4:
7-12229813-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.12229813G>C , CM000669.2:g.12229813G>C | GRCh38 |
| NC_000007.13:g.12269439G>C , CM000669.1:g.12269439G>C | GRCh37 |
| NC_000007.12:g.12235964G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444443.6:c.576G>C | ENSP00000401302.2:p.Met192Ile | |
| ENST00000704347.1:c.282-576G>C | ENSP00000515858.1:n.282-576G>C | |
| ENST00000704348.1:c.442-576G>C | ENSP00000515859.1:n.442-576G>C | |
| ENST00000704349.1:c.442-576G>C | ENSP00000515860.1:n.442-576G>C | |
| ENST00000704416.1:c.282G>C | ENSP00000515892.1:p.Met94Ile | |
| ENST00000704417.1:c.501G>C | ENSP00000515893.1:p.Met167Ile | |
| ENST00000704455.1:c.576G>C | ENSP00000515905.1:p.Met192Ile | |
| ENST00000704457.1:c.576G>C | ENSP00000515907.1:p.Met192Ile | |
| ENST00000396668.8:c.576G>C MANE Select | ENSP00000379902.3:p.Met192Ile | |
| ENST00000396667.7:c.576G>C | ENSP00000379901.2:p.Met192Ile | |
| ENST00000396668.7:c.576G>C | ENSP00000379902.3:p.Met192Ile | |
| ENST00000420833.5:c.*462G>C | ENSP00000391016.1:n.*462G>C | |
| ENST00000492762.1:n.66G>C | ||
| NM_001134232.1:c.576G>C | NP_001127704.1:p.Met192Ile | |
| NM_018374.3:c.576G>C | NP_060844.2:p.Met192Ile | |
| XM_005249789.1:c.576G>C | XP_005249846.1:p.Met192Ile | |
| NM_001134232.2:c.576G>C MANE Select | NP_001127704.1:p.Met192Ile | |
| NM_018374.4:c.576G>C | NP_060844.2:p.Met192Ile |