Linked Data
dbSNP Id:
rs967725498
gnomAD v2:
3-170724843-G-A
gnomAD v3:
3-171007054-G-A
gnomAD v4:
3-171007054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.171007054G>A , CM000665.2:g.171007054G>A | GRCh38 |
| NC_000003.11:g.170724843G>A , CM000665.1:g.170724843G>A | GRCh37 |
| NC_000003.10:g.172207537G>A | NCBI36 |
| NG_008108.1:g.24926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314251.8:c.612+94C>T MANE Select | ENSP00000323568.3:n.612+94C>T | |
| ENST00000314251.7:c.612+94C>T | ENSP00000323568.3:n.612+94C>T | |
| ENST00000461867.1:c.93+94C>T | ENSP00000418888.1:n.93+94C>T | |
| ENST00000469787.1:c.*79+94C>T | ENSP00000417918.1:n.*79+94C>T | |
| ENST00000471379.1:n.323+94C>T | ||
| ENST00000497642.5:c.*79+94C>T | ENSP00000418456.1:n.*79+94C>T | |
| NM_000340.1:c.612+94C>T | NP_000331.1:n.612+94C>T | |
| NM_001278658.1:c.255+94C>T | NP_001265587.1:n.255+94C>T | |
| NM_001278659.1:c.93+94C>T | NP_001265588.1:n.93+94C>T | |
| XM_011513087.1:c.567+94C>T | XP_011511389.1:n.567+94C>T | |
| XM_011513088.1:c.393+94C>T | XP_011511390.1:n.393+94C>T | |
| XM_011513089.1:c.93+94C>T | XP_011511391.1:n.93+94C>T | |
| XM_011513087.2:c.567+94C>T | XP_011511389.1:n.567+94C>T | |
| XM_024453720.1:c.93+94C>T | XP_024309488.1:n.93+94C>T | |
| NM_000340.2:c.612+94C>T MANE Select | NP_000331.1:n.612+94C>T | |
| NM_001278658.2:c.255+94C>T | NP_001265587.1:n.255+94C>T | |
| NM_001278659.2:c.93+94C>T | NP_001265588.1:n.93+94C>T |