Linked Data
dbSNP Id:
rs144462104
gnomAD v2:
16-68792310-T-G
gnomAD v3:
16-68758407-T-G
gnomAD v4:
16-68758407-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68758407T>G , CM000678.2:g.68758407T>G | GRCh38 |
| NC_000016.9:g.68792310T>G , CM000678.1:g.68792310T>G | GRCh37 |
| NC_000016.8:g.67349811T>G | NCBI36 |
| NG_008021.1:g.26116T>G , LRG_301:g.26116T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.163+19996T>G MANE Select | ENSP00000261769.4:n.163+19996T>G | |
| ENST00000261769.9:c.163+19996T>G | ENSP00000261769.4:n.163+19996T>G | |
| ENST00000422392.6:c.163+19996T>G | ENSP00000414946.2:n.163+19996T>G | |
| ENST00000566510.5:c.163+19996T>G | ENSP00000458139.1:n.163+19996T>G | |
| ENST00000566612.5:c.163+19996T>G | ENSP00000454782.1:n.163+19996T>G | |
| ENST00000611625.4:c.163+19996T>G | ENSP00000481063.1:n.163+19996T>G | |
| ENST00000612417.4:c.163+19996T>G | ENSP00000478360.1:n.163+19996T>G | |
| ENST00000621016.4:c.163+19996T>G | ENSP00000480664.1:n.163+19996T>G | |
| NM_004360.3:c.163+19996T>G , LRG_301t1:c.163+19996T>G | NP_004351.1:n.163+19996T>G | |
| NM_001317184.1:c.163+19996T>G | NP_001304113.1:n.163+19996T>G | |
| NM_001317185.1:c.-1453+19996T>G | NP_001304114.1:n.-1453+19996T>G | |
| NM_001317186.1:c.-1657+19996T>G | NP_001304115.1:n.-1657+19996T>G | |
| NM_004360.4:c.163+19996T>G | NP_004351.1:n.163+19996T>G | |
| NM_004360.5:c.163+19996T>G MANE Select | NP_004351.1:n.163+19996T>G | |
| NM_001317184.2:c.163+19996T>G | NP_001304113.1:n.163+19996T>G | |
| NM_001317185.2:c.-1453+19996T>G | NP_001304114.1:n.-1453+19996T>G | |
| NM_001317186.2:c.-1657+19996T>G | NP_001304115.1:n.-1657+19996T>G |