Linked Data
ClinVar Variation Id:
1053147
ClinVar RCV Id:
RCV001361456
dbSNP Id:
rs773962517
ExAC:
16:30197992 C / T
gnomAD v2:
16-30197992-C-T
gnomAD v3:
16-30186671-C-T
gnomAD v4:
16-30186671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186671C>T , CM000678.2:g.30186671C>T | GRCh38 |
| NC_000016.9:g.30197992C>T , CM000678.1:g.30197992C>T | GRCh37 |
| NC_000016.8:g.30105493C>T | NCBI36 |
| NG_023415.1:g.8067C>T , LRG_195:g.8067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.258C>T | ||
| ENST00000219150.10:c.272C>T MANE Select | ENSP00000219150.6:p.Pro91Leu | |
| ENST00000219150.9:c.272C>T | ENSP00000219150.5:p.Pro91Leu | |
| ENST00000561815.5:c.380C>T | ENSP00000456756.1:p.Pro127Leu | |
| ENST00000563778.5:c.272C>T | ENSP00000456266.1:p.Pro91Leu | |
| ENST00000565497.5:c.272C>T | ENSP00000456457.1:p.Pro91Leu | |
| ENST00000567034.5:n.740C>T | ||
| ENST00000568763.1:n.1584C>T | ||
| ENST00000568982.5:n.390C>T | ||
| ENST00000569203.5:c.272C>T | ENSP00000454752.1:p.Pro91Leu | |
| ENST00000569469.1:n.382C>T | ||
| ENST00000569970.1:c.272C>T | ENSP00000457509.1:p.Pro91Leu | |
| ENST00000570045.5:c.272C>T | ENSP00000455552.1:p.Pro91Leu | |
| ENST00000570244.5:c.199-145C>T | ENSP00000457332.1:n.199-145C>T | |
| NM_001193333.2:c.272C>T | NP_001180262.1:p.Pro91Leu | |
| NM_007074.3:c.272C>T | NP_009005.1:p.Pro91Leu | |
| XM_011545714.1:c.272C>T | XP_011544016.1:p.Pro91Leu | |
| XM_011545714.2:c.272C>T | XP_011544016.1:p.Pro91Leu | |
| XM_017022885.2:c.272C>T | XP_016878374.1:p.Pro91Leu | |
| XM_017022886.1:c.272C>T | XP_016878375.1:p.Pro91Leu | |
| NM_007074.4:c.272C>T MANE Select | NP_009005.1:p.Pro91Leu | |
| NM_001193333.3:c.272C>T | NP_001180262.1:p.Pro91Leu |