Linked Data
dbSNP Id:
rs759739007
ExAC:
16:56370596 C / T
gnomAD v2:
16-56370596-C-T
gnomAD v3:
16-56336684-C-T
gnomAD v4:
16-56336684-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336684C>T , CM000678.2:g.56336684C>T | GRCh38 |
| NC_000016.9:g.56370596C>T , CM000678.1:g.56370596C>T | GRCh37 |
| NC_000016.8:g.54928097C>T | NCBI36 |
| NG_042800.1:g.150346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.594-47C>T | ENSP00000262494.7:n.594-47C>T | |
| ENST00000262493.12:c.594-47C>T MANE Select | ENSP00000262493.6:n.594-47C>T | |
| ENST00000262494.12:c.594-47C>T | ENSP00000262494.7:n.594-47C>T | |
| ENST00000562316.6:c.261-47C>T | ENSP00000457238.2:n.261-47C>T | |
| ENST00000638185.1:n.809-47C>T | ||
| ENST00000638210.1:n.894-47C>T | ||
| ENST00000638705.1:c.594-47C>T | ENSP00000491223.1:n.594-47C>T | |
| ENST00000638836.1:n.504-47C>T | ||
| ENST00000639055.1:n.1315-47C>T | ||
| ENST00000639251.1:n.495-47C>T | ||
| ENST00000639268.1:c.229-47C>T | ||
| ENST00000639341.1:c.119-47C>T | ||
| ENST00000639770.1:c.632-47C>T | ENSP00000491999.1:n.632-47C>T | |
| ENST00000640390.1:n.524-47C>T | ||
| ENST00000640560.1:n.323C>T | ||
| ENST00000640893.1:c.433-47C>T | ENSP00000492677.1:n.433-47C>T | |
| ENST00000262493.10:c.594-47C>T | ENSP00000262493.6:n.594-47C>T | |
| ENST00000262494.11:c.594-47C>T | ENSP00000262494.7:n.594-47C>T | |
| NM_020988.2:c.594-47C>T | NP_066268.1:n.594-47C>T | |
| NM_138736.2:c.594-47C>T | NP_620073.2:n.594-47C>T | |
| XM_011523003.1:c.468-47C>T | XP_011521305.1:n.468-47C>T | |
| XM_011523003.3:c.468-47C>T | XP_011521305.1:n.468-47C>T | |
| NM_020988.3:c.594-47C>T MANE Select | NP_066268.1:n.594-47C>T | |
| NM_138736.3:c.594-47C>T | NP_620073.2:n.594-47C>T |