Linked Data
dbSNP Id:
rs2154299
gnomAD v2:
6-6286298-G-A
gnomAD v3:
6-6286065-G-A
gnomAD v4:
6-6286065-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6286065G>A , CM000668.2:g.6286065G>A | GRCh38 |
| NC_000006.11:g.6286298G>A , CM000668.1:g.6286298G>A | GRCh37 |
| NC_000006.10:g.6231297G>A | NCBI36 |
| NG_008107.1:g.39627C>T , LRG_549:g.39627C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.320-19256C>T MANE Select | ENSP00000264870.3:n.320-19256C>T | |
| ENST00000264870.7:c.320-19256C>T | ENSP00000264870.3:n.320-19256C>T | |
| ENST00000414279.5:c.320-19256C>T | ENSP00000413334.1:n.320-19256C>T | |
| ENST00000431222.6:c.482-19256C>T | ENSP00000416295.2:n.482-19256C>T | |
| ENST00000479211.1:n.305-19256C>T | ||
| NM_000129.3:c.320-19256C>T , LRG_549t1:c.320-19256C>T | NP_000120.2:n.320-19256C>T | |
| XM_006715010.2:c.320-19256C>T | XP_006715073.1:n.320-19256C>T | |
| XM_011514342.1:c.482-19256C>T | XP_011512644.1:n.482-19256C>T | |
| NM_000129.4:c.320-19256C>T MANE Select | NP_000120.2:n.320-19256C>T |