Linked Data
dbSNP Id:
rs3781637
gnomAD v2:
11-92713770-T-C
gnomAD v3:
11-92980604-T-C
gnomAD v4:
11-92980604-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.92980604T>C , CM000673.2:g.92980604T>C | GRCh38 |
| NC_000011.9:g.92713770T>C , CM000673.1:g.92713770T>C | GRCh37 |
| NC_000011.8:g.92353418T>C | NCBI36 |
| NG_028160.1:g.15982T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257068.3:c.224-843T>C MANE Select | ENSP00000257068.2:n.224-843T>C | |
| ENST00000257068.2:c.224-843T>C | ENSP00000257068.2:n.224-843T>C | |
| ENST00000528076.1:c.166-4203T>C | ||
| ENST00000532482.1:c.355-843T>C | ENSP00000436101.1:n.355-843T>C | |
| NM_005959.3:c.224-843T>C | NP_005950.1:n.224-843T>C | |
| XM_011542839.1:c.224-843T>C | XP_011541141.1:n.224-843T>C | |
| XM_011542839.2:c.224-843T>C | XP_011541141.1:n.224-843T>C | |
| XM_017017777.1:c.98-843T>C | XP_016873266.1:n.98-843T>C | |
| NM_005959.5:c.224-843T>C MANE Select | NP_005950.1:n.224-843T>C |