Linked Data
dbSNP Id:
rs1330755233
gnomAD v2:
6-158535954-C-T
gnomAD v3:
6-158114922-C-T
gnomAD v4:
6-158114922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114922C>T , CM000668.2:g.158114922C>T | GRCh38 |
| NC_000006.11:g.158535954C>T , CM000668.1:g.158535954C>T | GRCh37 |
| NC_000006.10:g.158455942C>T | NCBI36 |
| NG_032889.1:g.58359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.763G>A | ENSP00000391168.2:n.763G>A | |
| ENST00000607071.6:c.*1271G>A | ENSP00000475855.1:n.*1271G>A | |
| ENST00000642244.1:c.1461G>A | ENSP00000493554.1:p.Met487Ile | |
| ENST00000642903.1:c.1551G>A | ENSP00000493559.1:p.Met517Ile | |
| ENST00000644972.1:c.1551G>A | ENSP00000496451.1:p.Met517Ile | |
| ENST00000645077.1:c.*1172G>A | ENSP00000496113.1:n.*1172G>A | |
| ENST00000645172.1:c.*1253G>A | ENSP00000495367.1:n.*1253G>A | |
| ENST00000646190.1:n.2882G>A | ||
| ENST00000646208.1:c.1287G>A | ENSP00000493723.1:p.Met429Ile | |
| ENST00000646410.1:c.1422G>A | ENSP00000494205.1:p.Met474Ile | |
| ENST00000646562.1:c.*1385G>A | ENSP00000496087.1:n.*1385G>A | |
| ENST00000647468.2:c.1551G>A MANE Select | ENSP00000496731.1:p.Met517Ile | |
| ENST00000648111.1:c.*1239G>A | ENSP00000497275.1:n.*1239G>A | |
| ENST00000367101.5:c.1595G>A | ENSP00000356068.1:p.Ter532= | |
| ENST00000367104.7:c.1551G>A | ENSP00000356071.3:p.Met517Ile | |
| ENST00000435180.5:c.276G>A | ENSP00000391168.1:p.Met92Ile | |
| ENST00000606965.5:c.*112G>A | ENSP00000475808.1:n.*112G>A | |
| ENST00000607071.5:c.*1485G>A | ENSP00000475855.1:n.*1485G>A | |
| ENST00000607742.5:c.*2829G>A | ENSP00000475523.1:n.*2829G>A | |
| NM_032861.3:c.1551G>A | NP_116250.3:p.Met517Ile | |
| NR_073096.1:n.1484G>A | ||
| XM_006715586.1:c.1341G>A | XP_006715649.1:p.Met447Ile | |
| XM_011536196.1:c.1530G>A | XP_011534498.1:p.Met510Ile | |
| XM_011536197.1:c.1437G>A | XP_011534499.1:p.Met479Ile | |
| XM_011536198.1:c.1341G>A | XP_011534500.1:p.Met447Ile | |
| XM_006715586.3:c.1341G>A | XP_006715649.1:p.Met447Ile | |
| XM_011536196.3:c.1530G>A | XP_011534498.1:p.Met510Ile | |
| XM_011536198.3:c.1341G>A | XP_011534500.1:p.Met447Ile | |
| XM_024446573.1:c.1551G>A | XP_024302341.1:p.Met517Ile | |
| XR_001743697.2:n.1582G>A | ||
| XR_942606.2:n.1633G>A | ||
| NM_032861.4:c.1551G>A MANE Select | NP_116250.3:p.Met517Ile | |
| NR_073096.2:n.1466G>A |