Linked Data
dbSNP Id:
rs1336157777
gnomAD v2:
3-81698314-G-C
gnomAD v3:
3-81649163-G-C
gnomAD v4:
3-81649163-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81649163G>C , CM000665.2:g.81649163G>C | GRCh38 |
| NC_000003.11:g.81698314G>C , CM000665.1:g.81698314G>C | GRCh37 |
| NC_000003.10:g.81781004G>C | NCBI36 |
| NG_011810.1:g.117638C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.556-172C>G MANE Select | ENSP00000410833.2:n.556-172C>G | |
| ENST00000429644.6:c.556-172C>G | ENSP00000410833.2:n.556-172C>G | |
| ENST00000486920.1:n.552-172C>G | ||
| ENST00000489715.1:c.433-172C>G | ENSP00000419638.1:n.433-172C>G | |
| ENST00000498468.1:n.84-172C>G | ||
| NM_000158.3:c.556-172C>G | NP_000149.3:n.556-172C>G | |
| NM_000158.4:c.556-172C>G MANE Select | NP_000149.4:n.556-172C>G |