Linked Data
dbSNP Id:
rs9935563
gnomAD v2:
16-68861656-T-C
gnomAD v3:
16-68827753-T-C
gnomAD v4:
16-68827753-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68827753T>C , CM000678.2:g.68827753T>C | GRCh38 |
| NC_000016.9:g.68861656T>C , CM000678.1:g.68861656T>C | GRCh37 |
| NC_000016.8:g.67419157T>C | NCBI36 |
| NG_008021.1:g.95462T>C , LRG_301:g.95462T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2165-421T>C MANE Select | ENSP00000261769.4:n.2165-421T>C | |
| ENST00000261769.9:c.2165-421T>C | ENSP00000261769.4:n.2165-421T>C | |
| ENST00000422392.6:c.1982-421T>C | ENSP00000414946.2:n.1982-421T>C | |
| ENST00000562118.1:n.383-421T>C | ||
| ENST00000562836.5:n.2236-421T>C | ||
| ENST00000566510.5:c.*831-421T>C | ENSP00000458139.1:n.*831-421T>C | |
| ENST00000566612.5:c.*405-421T>C | ENSP00000454782.1:n.*405-421T>C | |
| ENST00000611625.4:c.2228-421T>C | ENSP00000481063.1:n.2228-421T>C | |
| ENST00000612417.4:c.1853+1199T>C | ENSP00000478360.1:n.1853+1199T>C | |
| ENST00000621016.4:c.1865+5599T>C | ENSP00000480664.1:n.1865+5599T>C | |
| NM_004360.3:c.2165-421T>C , LRG_301t1:c.2165-421T>C | NP_004351.1:n.2165-421T>C | |
| XM_011523488.1:c.1430-421T>C | XP_011521790.1:n.1430-421T>C | |
| XM_011523489.1:c.1430-421T>C | XP_011521791.1:n.1430-421T>C | |
| NM_001317184.1:c.1982-421T>C | NP_001304113.1:n.1982-421T>C | |
| NM_001317185.1:c.617-421T>C | NP_001304114.1:n.617-421T>C | |
| NM_001317186.1:c.200-421T>C | NP_001304115.1:n.200-421T>C | |
| NM_004360.4:c.2165-421T>C | NP_004351.1:n.2165-421T>C | |
| NM_004360.5:c.2165-421T>C MANE Select | NP_004351.1:n.2165-421T>C | |
| NM_001317184.2:c.1982-421T>C | NP_001304113.1:n.1982-421T>C | |
| NM_001317185.2:c.617-421T>C | NP_001304114.1:n.617-421T>C | |
| NM_001317186.2:c.200-421T>C | NP_001304115.1:n.200-421T>C |