Linked Data
dbSNP Id:
rs10128264
gnomAD v2:
10-80959973-T-C
gnomAD v3:
10-79200216-T-C
gnomAD v4:
10-79200216-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79200216T>C , CM000672.2:g.79200216T>C | GRCh38 |
| NC_000010.10:g.80959973T>C , CM000672.1:g.80959973T>C | GRCh37 |
| NC_000010.9:g.80629979T>C | NCBI36 |
| NG_028289.1:g.136182T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334512.10:c.-49-1368T>C MANE Select | ENSP00000334474.5:n.-49-1368T>C | |
| ENST00000334512.9:c.-49-1368T>C | ENSP00000334474.5:n.-49-1368T>C | |
| NM_020338.3:c.-49-1368T>C | NP_065071.1:n.-49-1368T>C | |
| XM_005269987.3:c.-49-1368T>C | XP_005270044.1:n.-49-1368T>C | |
| XM_005269988.2:c.-49-1368T>C | XP_005270045.1:n.-49-1368T>C | |
| XM_006717923.2:c.-49-1368T>C | XP_006717986.1:n.-49-1368T>C | |
| XM_006717924.2:c.-49-1368T>C | XP_006717987.1:n.-49-1368T>C | |
| XM_006717925.2:c.-49-1368T>C | XP_006717988.1:n.-49-1368T>C | |
| XM_005269987.5:c.-49-1368T>C | XP_005270044.1:n.-49-1368T>C | |
| XM_005269988.3:c.-49-1368T>C | XP_005270045.1:n.-49-1368T>C | |
| XM_006717923.3:c.-49-1368T>C | XP_006717986.1:n.-49-1368T>C | |
| XM_006717924.3:c.-49-1368T>C | XP_006717987.1:n.-49-1368T>C | |
| XM_006717925.3:c.-49-1368T>C | XP_006717988.1:n.-49-1368T>C | |
| NM_020338.4:c.-49-1368T>C MANE Select | NP_065071.1:n.-49-1368T>C |