Linked Data
ClinVar Variation Id:
318437
dbSNP Id:
rs200714599
ExAC:
16:23388569 C / T
gnomAD v2:
16-23388569-C-T
gnomAD v3:
16-23377248-C-T
gnomAD v4:
16-23377248-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23377248C>T , CM000678.2:g.23377248C>T | GRCh38 |
| NC_000016.9:g.23388569C>T , CM000678.1:g.23388569C>T | GRCh37 |
| NC_000016.8:g.23296070C>T | NCBI36 |
| NG_011908.1:g.79979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1346+8C>T MANE Select | ENSP00000345751.2:n.1346+8C>T | |
| ENST00000307331.9:c.1481+8C>T | ENSP00000302874.5:n.1481+8C>T | |
| ENST00000343070.6:c.1346+8C>T | ENSP00000345751.2:n.1346+8C>T | |
| ENST00000564275.5:c.*351+8C>T | ENSP00000457754.1:n.*351+8C>T | |
| ENST00000568085.5:c.1238+8C>T | ENSP00000455673.1:n.1238+8C>T | |
| ENST00000568923.5:c.1265+8C>T | ENSP00000456309.1:n.1265+8C>T | |
| NM_000336.2:c.1346+8C>T | NP_000327.2:n.1346+8C>T | |
| XM_011545913.1:c.1379+8C>T | XP_011544215.1:n.1379+8C>T | |
| XM_011545914.1:c.1364+8C>T | XP_011544216.1:n.1364+8C>T | |
| XM_011545913.2:c.1379+8C>T | XP_011544215.1:n.1379+8C>T | |
| XM_017023525.1:c.1403+8C>T | XP_016879014.1:n.1403+8C>T | |
| XM_017023526.1:c.1295+8C>T | XP_016879015.1:n.1295+8C>T | |
| NM_000336.3:c.1346+8C>T MANE Select | NP_000327.2:n.1346+8C>T |