Linked Data
ClinVar Variation Id:
524221
dbSNP Id:
rs185060213
ExAC:
7:73471778 C / T
gnomAD v2:
7-73471778-C-T
gnomAD v3:
7-74057448-C-T
gnomAD v4:
7-74057448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74057448C>T , CM000669.2:g.74057448C>T | GRCh38 |
| NC_000007.13:g.73471778C>T , CM000669.1:g.73471778C>T | GRCh37 |
| NC_000007.12:g.73109714C>T | NCBI36 |
| NG_009261.1:g.34352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.1424C>T | ENSP00000510104.1:p.Pro475Leu | |
| ENST00000252034.12:c.1358-192C>T MANE Select | ENSP00000252034.7:n.1358-192C>T | |
| ENST00000252034.11:c.1358-192C>T | ENSP00000252034.7:n.1358-192C>T | |
| ENST00000320399.10:c.1358-192C>T | ENSP00000313565.6:n.1358-192C>T | |
| ENST00000320492.11:c.1171+735C>T | ENSP00000315607.7:n.1171+735C>T | |
| ENST00000357036.9:c.1373-192C>T | ENSP00000349540.5:n.1373-192C>T | |
| ENST00000358929.8:c.1424C>T | ENSP00000351807.5:p.Pro475Leu | |
| ENST00000380553.8:c.1006+735C>T | ENSP00000369926.4:n.1006+735C>T | |
| ENST00000380562.8:c.1358-192C>T | ENSP00000369936.4:n.1358-192C>T | |
| ENST00000380575.8:c.1327+735C>T | ENSP00000369949.4:n.1327+735C>T | |
| ENST00000380576.9:c.1357+735C>T | ENSP00000369950.5:n.1357+735C>T | |
| ENST00000380584.8:c.1315+735C>T | ENSP00000369958.4:n.1315+735C>T | |
| ENST00000414324.5:c.1342+735C>T | ENSP00000392575.1:n.1342+735C>T | |
| ENST00000429192.5:c.1372+735C>T | ENSP00000391129.1:n.1372+735C>T | |
| ENST00000445912.5:c.1358-192C>T | ENSP00000389857.1:n.1358-192C>T | |
| ENST00000458204.5:c.1328-192C>T | ENSP00000403162.1:n.1328-192C>T | |
| ENST00000621115.4:c.1147+735C>T | ENSP00000480955.1:n.1147+735C>T | |
| NM_000501.3:c.1358-192C>T | NP_000492.2:n.1358-192C>T | |
| NM_001081752.2:c.1327+735C>T | NP_001075221.1:n.1327+735C>T | |
| NM_001081753.2:c.1372+735C>T | NP_001075222.1:n.1372+735C>T | |
| NM_001081754.2:c.1373-192C>T | NP_001075223.1:n.1373-192C>T | |
| NM_001081755.2:c.1357+735C>T | NP_001075224.1:n.1357+735C>T | |
| NM_001278912.1:c.1358-192C>T | NP_001265841.1:n.1358-192C>T | |
| NM_001278913.1:c.1171+735C>T | NP_001265842.1:n.1171+735C>T | |
| NM_001278914.1:c.1342+735C>T | NP_001265843.1:n.1342+735C>T | |
| NM_001278915.1:c.1358-192C>T | NP_001265844.1:n.1358-192C>T | |
| NM_001278916.1:c.1315+735C>T | NP_001265845.1:n.1315+735C>T | |
| NM_001278917.1:c.1328-192C>T | NP_001265846.1:n.1328-192C>T | |
| NM_001278918.1:c.1147+735C>T | NP_001265847.1:n.1147+735C>T | |
| NM_001278939.1:c.1424C>T | NP_001265868.1:p.Pro475Leu | |
| XM_005250187.1:c.1322-192C>T | XP_005250244.1:n.1322-192C>T | |
| XM_005250188.1:c.1316-192C>T | XP_005250245.1:n.1316-192C>T | |
| XM_011515868.1:c.1373-192C>T | XP_011514170.1:n.1373-192C>T | |
| XM_011515869.1:c.1343-192C>T | XP_011514171.1:n.1343-192C>T | |
| XM_011515870.1:c.1337-192C>T | XP_011514172.1:n.1337-192C>T | |
| XM_011515871.1:c.1331-192C>T | XP_011514173.1:n.1331-192C>T | |
| XM_011515872.1:c.1319-192C>T | XP_011514174.1:n.1319-192C>T | |
| XM_011515873.1:c.1372+735C>T | XP_011514175.1:n.1372+735C>T | |
| XM_011515874.1:c.1307-192C>T | XP_011514176.1:n.1307-192C>T | |
| XM_011515875.1:c.1292-192C>T | XP_011514177.1:n.1292-192C>T | |
| XM_011515876.1:c.1373-192C>T | XP_011514178.1:n.1373-192C>T | |
| XM_011515877.1:c.1318+735C>T | XP_011514179.1:n.1318+735C>T | |
| XM_005250187.2:c.1322-192C>T | XP_005250244.1:n.1322-192C>T | |
| XM_005250188.2:c.1316-192C>T | XP_005250245.1:n.1316-192C>T | |
| XM_011515868.2:c.1373-192C>T | XP_011514170.1:n.1373-192C>T | |
| XM_011515871.2:c.1331-192C>T | XP_011514173.1:n.1331-192C>T | |
| XM_011515872.2:c.1319-192C>T | XP_011514174.1:n.1319-192C>T | |
| XM_011515873.2:c.1372+735C>T | XP_011514175.1:n.1372+735C>T | |
| XM_011515875.2:c.1292-192C>T | XP_011514177.1:n.1292-192C>T | |
| XM_011515876.2:c.1373-192C>T | XP_011514178.1:n.1373-192C>T | |
| XM_011515877.2:c.1318+735C>T | XP_011514179.1:n.1318+735C>T | |
| XM_017011813.1:c.1286-192C>T | XP_016867302.1:n.1286-192C>T | |
| XM_017011814.2:c.1330+735C>T | XP_016867303.1:n.1330+735C>T | |
| NM_000501.4:c.1358-192C>T MANE Select | NP_000492.2:n.1358-192C>T | |
| NM_001081752.3:c.1327+735C>T | NP_001075221.1:n.1327+735C>T | |
| NM_001081753.3:c.1372+735C>T | NP_001075222.1:n.1372+735C>T | |
| NM_001081754.3:c.1373-192C>T | NP_001075223.1:n.1373-192C>T | |
| NM_001081755.3:c.1357+735C>T | NP_001075224.1:n.1357+735C>T | |
| NM_001278912.2:c.1358-192C>T | NP_001265841.1:n.1358-192C>T | |
| NM_001278913.2:c.1171+735C>T | NP_001265842.1:n.1171+735C>T | |
| NM_001278914.2:c.1342+735C>T | NP_001265843.1:n.1342+735C>T | |
| NM_001278915.2:c.1358-192C>T | NP_001265844.1:n.1358-192C>T | |
| NM_001278916.2:c.1315+735C>T | NP_001265845.1:n.1315+735C>T | |
| NM_001278917.2:c.1328-192C>T | NP_001265846.1:n.1328-192C>T | |
| NM_001278918.2:c.1147+735C>T | NP_001265847.1:n.1147+735C>T | |
| NM_001278939.2:c.1424C>T | NP_001265868.1:p.Pro475Leu |