Linked Data
ClinVar Variation Id:
2091374
ClinVar RCV Id:
RCV003013577
dbSNP Id:
rs1174861644
gnomAD v2:
15-89866665-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323434A>G , CM000677.2:g.89323434A>G | GRCh38 |
| NC_000015.9:g.89866665A>G , CM000677.1:g.89866665A>G | GRCh37 |
| NC_000015.8:g.87667669A>G | NCBI36 |
| NG_008218.1:g.16362T>C | |
| NG_008218.2:g.16362T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2235T>C | ENSP00000516154.1:p.Pro745= | |
| ENST00000268124.11:c.2235T>C MANE Select | ENSP00000268124.5:p.Pro745= | |
| ENST00000530292.3:c.1836T>C | ENSP00000432885.2:p.Pro612= | |
| ENST00000635986.2:c.2235T>C | ENSP00000490653.2:p.Pro745= | |
| ENST00000636774.1:c.*802T>C | ENSP00000489799.1:n.*802T>C | |
| ENST00000637238.1:c.932T>C | ENSP00000490756.1:n.932T>C | |
| ENST00000637264.1:c.1307T>C | ||
| ENST00000666746.1:c.1812T>C | ||
| ENST00000670281.1:c.555T>C | ENSP00000499709.1:p.Pro185= | |
| ENST00000672071.1:n.2433T>C | ||
| ENST00000672923.2:n.2338T>C | ||
| ENST00000268124.9:c.2235T>C | ENSP00000268124.5:p.Pro745= | |
| ENST00000442287.6:c.2235T>C | ENSP00000399851.2:p.Pro745= | |
| ENST00000526314.2:c.539+381T>C | ||
| ENST00000526398.1:c.384T>C | ||
| ENST00000528881.2:c.4T>C | ||
| ENST00000532584.5:n.437T>C | ||
| ENST00000631044.2:c.*1659T>C | ENSP00000486730.1:n.*1659T>C | |
| NM_001126131.1:c.2235T>C | NP_001119603.1:p.Pro745= | |
| NM_002693.2:c.2235T>C | NP_002684.1:p.Pro745= | |
| NM_001126131.2:c.2235T>C | NP_001119603.1:p.Pro745= | |
| NM_002693.3:c.2235T>C MANE Select | NP_002684.1:p.Pro745= |