Linked Data
ClinVar Variation Id:
318434
dbSNP Id:
rs369905217
ExAC:
16:23387187 G / T
gnomAD v2:
16-23387187-G-T
gnomAD v3:
16-23375866-G-T
gnomAD v4:
16-23375866-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23375866G>T , CM000678.2:g.23375866G>T | GRCh38 |
| NC_000016.9:g.23387187G>T , CM000678.1:g.23387187G>T | GRCh37 |
| NC_000016.8:g.23294688G>T | NCBI36 |
| NG_011908.1:g.78597G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1270+11G>T MANE Select | ENSP00000345751.2:n.1270+11G>T | |
| ENST00000307331.9:c.1405+11G>T | ENSP00000302874.5:n.1405+11G>T | |
| ENST00000343070.6:c.1270+11G>T | ENSP00000345751.2:n.1270+11G>T | |
| ENST00000564275.5:c.*275+11G>T | ENSP00000457754.1:n.*275+11G>T | |
| ENST00000568085.5:c.1162+11G>T | ENSP00000455673.1:n.1162+11G>T | |
| ENST00000568923.5:c.1189+11G>T | ENSP00000456309.1:n.1189+11G>T | |
| NM_000336.2:c.1270+11G>T | NP_000327.2:n.1270+11G>T | |
| XM_011545913.1:c.1303+11G>T | XP_011544215.1:n.1303+11G>T | |
| XM_011545914.1:c.1288+11G>T | XP_011544216.1:n.1288+11G>T | |
| XM_011545913.2:c.1303+11G>T | XP_011544215.1:n.1303+11G>T | |
| XM_017023525.1:c.1327+11G>T | XP_016879014.1:n.1327+11G>T | |
| XM_017023526.1:c.1219+11G>T | XP_016879015.1:n.1219+11G>T | |
| NM_000336.3:c.1270+11G>T MANE Select | NP_000327.2:n.1270+11G>T |