Linked Data
ClinVar Variation Id:
165170
dbSNP Id:
rs34618783
ExAC:
16:23391401 G / A
gnomAD v2:
16-23391401-G-A
gnomAD v3:
16-23380080-G-A
gnomAD v4:
16-23380080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23380080G>A , CM000678.2:g.23380080G>A | GRCh38 |
| NC_000016.9:g.23391401G>A , CM000678.1:g.23391401G>A | GRCh37 |
| NC_000016.8:g.23298902G>A | NCBI36 |
| NG_011908.1:g.82811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1467-14G>A MANE Select | ENSP00000345751.2:n.1467-14G>A | |
| ENST00000307331.9:c.1602-14G>A | ENSP00000302874.5:n.1602-14G>A | |
| ENST00000343070.6:c.1467-14G>A | ENSP00000345751.2:n.1467-14G>A | |
| ENST00000564275.5:c.*472-14G>A | ENSP00000457754.1:n.*472-14G>A | |
| ENST00000568085.5:c.1359-14G>A | ENSP00000455673.1:n.1359-14G>A | |
| ENST00000568923.5:c.1386-14G>A | ENSP00000456309.1:n.1386-14G>A | |
| NM_000336.2:c.1467-14G>A | NP_000327.2:n.1467-14G>A | |
| XM_011545913.1:c.1500-14G>A | XP_011544215.1:n.1500-14G>A | |
| XM_011545914.1:c.1485-14G>A | XP_011544216.1:n.1485-14G>A | |
| XM_011545913.2:c.1500-14G>A | XP_011544215.1:n.1500-14G>A | |
| XM_017023525.1:c.1524-14G>A | XP_016879014.1:n.1524-14G>A | |
| XM_017023526.1:c.1416-14G>A | XP_016879015.1:n.1416-14G>A | |
| NM_000336.3:c.1467-14G>A MANE Select | NP_000327.2:n.1467-14G>A |