Linked Data
dbSNP Id:
rs1329713668
gnomAD v2:
3-12229442-G-A
gnomAD v3:
3-12187942-G-A
gnomAD v4:
3-12187942-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12187942G>A , CM000665.2:g.12187942G>A | GRCh38 |
| NC_000003.11:g.12229442G>A , CM000665.1:g.12229442G>A | GRCh37 |
| NC_000003.10:g.12204442G>A | NCBI36 |
| NG_011728.2:g.188555G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621198.5:c.1613+330G>A MANE Select | ENSP00000480050.1:n.1613+330G>A | |
| ENST00000439861.5:n.1232+330G>A | ||
| ENST00000621198.4:c.1613+330G>A | ENSP00000480050.1:n.1613+330G>A | |
| NM_133625.4:c.1613+330G>A | NP_598328.1:n.1613+330G>A | |
| XM_006713312.2:c.1130+330G>A | XP_006713375.1:n.1130+330G>A | |
| XM_006713313.2:c.842+330G>A | XP_006713376.1:n.842+330G>A | |
| XM_006713312.4:c.1130+330G>A | XP_006713375.1:n.1130+330G>A | |
| XM_017007087.1:c.941+330G>A | XP_016862576.1:n.941+330G>A | |
| NM_133625.5:c.1613+330G>A | NP_598328.1:n.1613+330G>A | |
| NM_133625.6:c.1613+330G>A MANE Select | NP_598328.1:n.1613+330G>A |