Linked Data
dbSNP Id:
rs1237338683
gnomAD v2:
9-123742824-C-A
gnomAD v3:
9-120980546-C-A
gnomAD v4:
9-120980546-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120980546C>A , CM000671.2:g.120980546C>A | GRCh38 |
| NC_000009.11:g.123742824C>A , CM000671.1:g.123742824C>A | GRCh37 |
| NC_000009.10:g.122782645C>A | NCBI36 |
| NG_007364.1:g.74731G>T , LRG_28:g.74731G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.398-292G>T | ||
| ENST00000696279.1:c.3807-292G>T | ||
| ENST00000696280.1:n.3576-292G>T | ||
| ENST00000696281.1:c.3505-292G>T | ENSP00000512521.1:n.3505-292G>T | |
| ENST00000697921.1:n.2365-292G>T | ||
| ENST00000697922.1:c.*3477-292G>T | ENSP00000513478.1:n.*3477-292G>T | |
| ENST00000697923.1:n.3932-292G>T | ||
| ENST00000223642.3:c.3487-292G>T MANE Select | ENSP00000223642.1:n.3487-292G>T | |
| ENST00000223642.2:c.3487-292G>T | ENSP00000223642.1:n.3487-292G>T | |
| ENST00000489802.1:n.50-292G>T | ||
| NM_001735.2:c.3487-292G>T , LRG_28t1:c.3487-292G>T | NP_001726.2:n.3487-292G>T | |
| XM_011518980.1:c.3502-292G>T | XP_011517282.1:n.3502-292G>T | |
| NM_001317163.1:c.3505-292G>T | NP_001304092.1:n.3505-292G>T | |
| NM_001317163.2:c.3505-292G>T | NP_001304092.1:n.3505-292G>T | |
| NM_001735.3:c.3487-292G>T MANE Select | NP_001726.2:n.3487-292G>T |