Linked Data
ClinVar Variation Id:
1648377
ClinVar RCV Id:
RCV002141167
dbSNP Id:
rs762051507
ExAC:
16:4391004 C / T
gnomAD v2:
16-4391004-C-T
gnomAD v3:
16-4341003-C-T
gnomAD v4:
16-4341003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4341003C>T , CM000678.2:g.4341003C>T | GRCh38 |
| NC_000016.9:g.4391004C>T , CM000678.1:g.4391004C>T | GRCh37 |
| NC_000016.8:g.4331005C>T | NCBI36 |
| NG_016391.1:g.13780C>T | |
| NG_016391.2:g.31243C>T | |
| NG_054893.1:g.15370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318059.8:c.226-18G>A (PAM16) MANE Select | ENSP00000315693.3:n.226-18G>A | |
| ENST00000318059.7:c.226-18G>A (PAM16) | ENSP00000315693.3:n.226-18G>A | |
| ENST00000571178.1:c.200-18G>A (PAM16) | ||
| ENST00000571941.5:c.286-18G>A (PAM16) | ENSP00000460708.1:n.286-18G>A | |
| ENST00000571986.5:c.*119-18G>A (PAM16) | ENSP00000459802.1:n.*119-18G>A | |
| ENST00000572274.1:n.628-18G>A (CORO7-PAM16) | ||
| ENST00000572467.5:c.2995-18G>A (CORO7-PAM16) | ENSP00000460885.1:n.2995-18G>A | |
| ENST00000573236.5:n.482-18G>A (PAM16) | ||
| ENST00000573450.5:n.359-18G>A (PAM16) | ||
| ENST00000573553.5:c.286-18G>A (PAM16) | ENSP00000459955.1:n.286-18G>A | |
| ENST00000573614.5:n.430-18G>A (PAM16) | ||
| ENST00000575334.5:c.*1521-18G>A (CORO7-PAM16) | ENSP00000458607.1:n.*1521-18G>A | |
| ENST00000575636.5:c.*119-18G>A (PAM16) | ENSP00000458914.1:n.*119-18G>A | |
| ENST00000575848.5:c.262-18G>A (PAM16) | ENSP00000458412.1:n.262-18G>A | |
| ENST00000576217.1:c.226-18G>A (PAM16) | ENSP00000461047.1:n.226-18G>A | |
| ENST00000577031.5:c.226-18G>A (PAM16) | ENSP00000459113.1:n.226-18G>A | |
| NM_001201479.1:c.2995-18G>A (CORO7-PAM16) | NP_001188408.1:n.2995-18G>A | |
| NM_016069.9:c.226-18G>A (PAM16) | NP_057153.8:n.226-18G>A | |
| NM_016069.10:c.226-18G>A (PAM16) | NP_057153.8:n.226-18G>A | |
| NM_016069.11:c.226-18G>A (PAM16) MANE Select | NP_057153.8:n.226-18G>A | |
| NM_001201479.2:c.2995-18G>A (CORO7-PAM16) | NP_001188408.1:n.2995-18G>A |