Linked Data
ClinVar Variation Id:
1024082
dbSNP Id:
rs1370195868
gnomAD v2:
1-241675330-C-G
gnomAD v3:
1-241512030-C-G
gnomAD v4:
1-241512030-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512030C>G , CM000663.2:g.241512030C>G | GRCh38 |
| NC_000001.10:g.241675330C>G , CM000663.1:g.241675330C>G | GRCh37 |
| NC_000001.9:g.239741953C>G | NCBI36 |
| NG_012338.1:g.12725G>C , LRG_504:g.12725G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.995G>C | ||
| ENST00000682162.1:c.521G>C | ENSP00000508203.1:n.521G>C | |
| ENST00000682567.1:n.569G>C | ||
| ENST00000683521.1:c.492G>C | ENSP00000506864.1:p.Met164Ile | |
| ENST00000684483.1:c.492G>C | ENSP00000507894.1:p.Met164Ile | |
| ENST00000366560.4:c.492G>C MANE Select | ENSP00000355518.4:p.Met164Ile | |
| ENST00000366560.3:c.492G>C | ENSP00000355518.3:p.Met164Ile | |
| ENST00000497042.1:n.188G>C | ||
| NM_000143.3:c.492G>C , LRG_504t1:c.492G>C | NP_000134.2:p.Met164Ile | |
| XM_011544132.1:c.264G>C | XP_011542434.1:p.Met88Ile | |
| XM_011544132.2:c.264G>C | XP_011542434.1:p.Met88Ile | |
| NM_000143.4:c.492G>C MANE Select | NP_000134.2:p.Met164Ile |