Linked Data
dbSNP Id:
rs10970976
gnomAD v2:
9-32433526-T-C
gnomAD v3:
9-32433528-T-C
gnomAD v4:
9-32433528-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32433528T>C , CM000671.2:g.32433528T>C | GRCh38 |
| NC_000009.11:g.32433526T>C , CM000671.1:g.32433526T>C | GRCh37 |
| NC_000009.10:g.32423526T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309951.8:c.1852-200T>C MANE Select | ENSP00000309477.5:n.1852-200T>C | |
| ENST00000309951.7:c.1852-200T>C | ENSP00000309477.5:n.1852-200T>C | |
| ENST00000379923.5:c.1852-200T>C | ENSP00000369255.1:n.1852-200T>C | |
| ENST00000541043.5:c.1852-200T>C | ENSP00000438733.2:n.1852-200T>C | |
| NM_001278352.1:c.1852-200T>C | NP_001265281.1:n.1852-200T>C | |
| NM_002197.2:c.1852-200T>C | NP_002188.1:n.1852-200T>C | |
| XM_005251476.1:c.1852-200T>C | XP_005251533.1:n.1852-200T>C | |
| XM_011517888.1:c.1852-200T>C | XP_011516190.1:n.1852-200T>C | |
| NM_001362840.1:c.1852-200T>C | NP_001349769.1:n.1852-200T>C | |
| XM_011517888.2:c.1852-200T>C | XP_011516190.1:n.1852-200T>C | |
| NM_002197.3:c.1852-200T>C MANE Select | NP_002188.1:n.1852-200T>C | |
| NM_001362840.2:c.1852-200T>C | NP_001349769.1:n.1852-200T>C | |
| NM_001278352.2:c.1852-200T>C | NP_001265281.1:n.1852-200T>C |