Linked Data
dbSNP Id:
rs75912364
gnomAD v2:
6-38664713-G-T
gnomAD v3:
6-38696937-G-T
gnomAD v4:
6-38696937-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38696937G>T , CM000668.2:g.38696937G>T | GRCh38 |
| NC_000006.11:g.38664713G>T , CM000668.1:g.38664713G>T | GRCh37 |
| NC_000006.10:g.38772691G>T | NCBI36 |
| NG_012074.1:g.11240C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.84+6034C>A MANE Select | ENSP00000362463.3:n.84+6034C>A | |
| ENST00000373365.4:c.84+6034C>A | ENSP00000362463.3:n.84+6034C>A | |
| NM_006708.2:c.84+6034C>A | NP_006699.2:n.84+6034C>A | |
| NM_006708.3:c.84+6034C>A MANE Select | NP_006699.2:n.84+6034C>A |