Linked Data
ClinVar Variation Id:
789224
dbSNP Id:
rs142976385
ExAC:
16:4390914 C / A
gnomAD v2:
16-4390914-C-A
gnomAD v3:
16-4340913-C-A
gnomAD v4:
16-4340913-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4340913C>A , CM000678.2:g.4340913C>A | GRCh38 |
| NC_000016.9:g.4390914C>A , CM000678.1:g.4390914C>A | GRCh37 |
| NC_000016.8:g.4330915C>A | NCBI36 |
| NG_016391.1:g.13690C>A | |
| NG_016391.2:g.31153C>A | |
| NG_054893.1:g.15460G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318059.8:c.291+7G>T (PAM16) MANE Select | ENSP00000315693.3:n.291+7G>T | |
| ENST00000318059.7:c.291+7G>T (PAM16) | ENSP00000315693.3:n.291+7G>T | |
| ENST00000571178.1:c.265+7G>T (PAM16) | ||
| ENST00000571941.5:c.351+7G>T (PAM16) | ENSP00000460708.1:n.351+7G>T | |
| ENST00000571986.5:c.*184+7G>T (PAM16) | ENSP00000459802.1:n.*184+7G>T | |
| ENST00000572467.5:c.3060+7G>T (CORO7-PAM16) | ENSP00000460885.1:n.3060+7G>T | |
| ENST00000573236.5:n.547+7G>T (PAM16) | ||
| ENST00000573450.5:n.424+7G>T (PAM16) | ||
| ENST00000573553.5:c.351+7G>T (PAM16) | ENSP00000459955.1:n.351+7G>T | |
| ENST00000573614.5:n.495+7G>T (PAM16) | ||
| ENST00000575334.5:c.*1586+7G>T (CORO7-PAM16) | ENSP00000458607.1:n.*1586+7G>T | |
| ENST00000575636.5:c.*184+7G>T (PAM16) | ENSP00000458914.1:n.*184+7G>T | |
| ENST00000575848.5:c.327+7G>T (PAM16) | ENSP00000458412.1:n.327+7G>T | |
| ENST00000576217.1:c.291+7G>T (PAM16) | ENSP00000461047.1:n.291+7G>T | |
| ENST00000577031.5:c.291+7G>T (PAM16) | ENSP00000459113.1:n.291+7G>T | |
| NM_001201479.1:c.3060+7G>T (CORO7-PAM16) | NP_001188408.1:n.3060+7G>T | |
| NM_016069.9:c.291+7G>T (PAM16) | NP_057153.8:n.291+7G>T | |
| NM_016069.10:c.291+7G>T (PAM16) | NP_057153.8:n.291+7G>T | |
| NM_016069.11:c.291+7G>T (PAM16) MANE Select | NP_057153.8:n.291+7G>T | |
| NM_001201479.2:c.3060+7G>T (CORO7-PAM16) | NP_001188408.1:n.3060+7G>T |