Linked Data
ClinVar Variation Id:
509746
ClinVar RCV Id:
RCV000607735
dbSNP Id:
rs1343572338
gnomAD v2:
16-68771286-G-T
gnomAD v4:
16-68737383-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737383G>T , CM000678.2:g.68737383G>T | GRCh38 |
| NC_000016.9:g.68771286G>T , CM000678.1:g.68771286G>T | GRCh37 |
| NC_000016.8:g.67328787G>T | NCBI36 |
| NG_008021.1:g.5092G>T , LRG_301:g.5092G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.-33G>T MANE Select | ENSP00000261769.4:n.-33G>T | |
| ENST00000261769.9:c.-33G>T | ENSP00000261769.4:n.-33G>T | |
| ENST00000422392.6:c.-33G>T | ENSP00000414946.2:n.-33G>T | |
| ENST00000566510.5:c.-33G>T | ENSP00000458139.1:n.-33G>T | |
| ENST00000566612.5:c.-33G>T | ENSP00000454782.1:n.-33G>T | |
| ENST00000611625.4:c.-33G>T | ENSP00000481063.1:n.-33G>T | |
| ENST00000612417.4:c.-33G>T | ENSP00000478360.1:n.-33G>T | |
| ENST00000621016.4:c.-33G>T | ENSP00000480664.1:n.-33G>T | |
| NM_004360.3:c.-33G>T , LRG_301t1:c.-33G>T | NP_004351.1:n.-33G>T | |
| NM_001317184.1:c.-33G>T | NP_001304113.1:n.-33G>T | |
| NM_001317185.1:c.-1648G>T | NP_001304114.1:n.-1648G>T | |
| NM_001317186.1:c.-1852G>T | NP_001304115.1:n.-1852G>T | |
| NM_004360.4:c.-33G>T | NP_004351.1:n.-33G>T | |
| NM_004360.5:c.-33G>T MANE Select | NP_004351.1:n.-33G>T | |
| NM_001317184.2:c.-33G>T | NP_001304113.1:n.-33G>T | |
| NM_001317185.2:c.-1648G>T | NP_001304114.1:n.-1648G>T | |
| NM_001317186.2:c.-1852G>T | NP_001304115.1:n.-1852G>T |