Linked Data
dbSNP Id:
rs12159217
gnomAD v2:
22-17573915-G-T
gnomAD v3:
22-17093025-G-T
gnomAD v4:
22-17093025-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17093025G>T , CM000684.2:g.17093025G>T | GRCh38 |
| NC_000022.10:g.17573915G>T , CM000684.1:g.17573915G>T | GRCh37 |
| NC_000022.9:g.15953915G>T | NCBI36 |
| NG_028257.1:g.13065G>T , LRG_355:g.13065G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000612619.2:c.139-4037G>T | ENSP00000479970.1:n.139-4037G>T | |
| ENST00000694948.1:n.237-4037G>T | ||
| ENST00000694949.1:n.234-4037G>T | ||
| ENST00000694950.1:c.219-4037G>T | ||
| ENST00000319363.11:c.139-4037G>T MANE Select | ENSP00000320936.6:n.139-4037G>T | |
| ENST00000319363.10:c.139-4037G>T | ENSP00000320936.6:n.139-4037G>T | |
| ENST00000459971.1:n.174-4037G>T | ||
| ENST00000477874.1:n.277-4772G>T | ||
| ENST00000612619.1:c.139-4037G>T | ENSP00000479970.1:n.139-4037G>T | |
| NM_001289905.1:c.139-4037G>T | NP_001276834.1:n.139-4037G>T | |
| NM_014339.6:c.139-4037G>T , LRG_355t1:c.139-4037G>T | NP_055154.3:n.139-4037G>T | |
| XR_951215.1:n.1003C>A | ||
| NM_014339.7:c.139-4037G>T MANE Select | NP_055154.3:n.139-4037G>T | |
| NM_001289905.2:c.139-4037G>T | NP_001276834.1:n.139-4037G>T |