Linked Data
dbSNP Id:
rs752477377
ExAC:
6:158535753 C / A
gnomAD v2:
6-158535753-C-A
gnomAD v3:
6-158114721-C-A
gnomAD v4:
6-158114721-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114721C>A , CM000668.2:g.158114721C>A | GRCh38 |
| NC_000006.11:g.158535753C>A , CM000668.1:g.158535753C>A | GRCh37 |
| NC_000006.10:g.158455741C>A | NCBI36 |
| NG_032889.1:g.58560G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1404+68G>T | ENSP00000475855.1:n.*1404+68G>T | |
| ENST00000642244.1:c.1594+68G>T | ENSP00000493554.1:n.1594+68G>T | |
| ENST00000642903.1:c.1752G>T | ENSP00000493559.1:p.Lys584Asn | |
| ENST00000644972.1:c.1684+68G>T | ENSP00000496451.1:n.1684+68G>T | |
| ENST00000645077.1:c.*1305+68G>T | ENSP00000496113.1:n.*1305+68G>T | |
| ENST00000645172.1:c.*1386+68G>T | ENSP00000495367.1:n.*1386+68G>T | |
| ENST00000646190.1:n.3015+68G>T | ||
| ENST00000646208.1:c.1420+68G>T | ENSP00000493723.1:n.1420+68G>T | |
| ENST00000646410.1:c.1555+68G>T | ENSP00000494205.1:n.1555+68G>T | |
| ENST00000646562.1:c.*1586G>T | ENSP00000496087.1:n.*1586G>T | |
| ENST00000647468.2:c.1684+68G>T MANE Select | ENSP00000496731.1:n.1684+68G>T | |
| ENST00000648111.1:c.*1372+68G>T | ENSP00000497275.1:n.*1372+68G>T | |
| ENST00000367104.7:c.1684+68G>T | ENSP00000356071.3:n.1684+68G>T | |
| ENST00000435180.5:c.477G>T | ENSP00000391168.1:p.Lys159Asn | |
| ENST00000606965.5:c.*313G>T | ENSP00000475808.1:n.*313G>T | |
| ENST00000607071.5:c.*1618+68G>T | ENSP00000475855.1:n.*1618+68G>T | |
| ENST00000607742.5:c.*2962+68G>T | ENSP00000475523.1:n.*2962+68G>T | |
| NM_032861.3:c.1684+68G>T | NP_116250.3:n.1684+68G>T | |
| NR_073096.1:n.1685G>T | ||
| XM_006715586.1:c.1474+68G>T | XP_006715649.1:n.1474+68G>T | |
| XM_011536196.1:c.1663+68G>T | XP_011534498.1:n.1663+68G>T | |
| XM_011536197.1:c.1570+68G>T | XP_011534499.1:n.1570+68G>T | |
| XM_011536198.1:c.1474+68G>T | XP_011534500.1:n.1474+68G>T | |
| XM_006715586.3:c.1474+68G>T | XP_006715649.1:n.1474+68G>T | |
| XM_011536196.3:c.1663+68G>T | XP_011534498.1:n.1663+68G>T | |
| XM_011536198.3:c.1474+68G>T | XP_011534500.1:n.1474+68G>T | |
| XM_024446573.1:c.1684+68G>T | XP_024302341.1:n.1684+68G>T | |
| XR_001743697.2:n.1715+68G>T | ||
| XR_942606.2:n.1766+68G>T | ||
| NM_032861.4:c.1684+68G>T MANE Select | NP_116250.3:n.1684+68G>T | |
| NR_073096.2:n.1667G>T |