Linked Data
dbSNP Id:
rs1342803264
gnomAD v2:
12-112245458-C-T
gnomAD v3:
12-111807654-C-T
gnomAD v4:
12-111807654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111807654C>T , CM000674.2:g.111807654C>T | GRCh38 |
| NC_000012.11:g.112245458C>T , CM000674.1:g.112245458C>T | GRCh37 |
| NC_000012.10:g.110729841C>T | NCBI36 |
| NG_012250.1:g.46113C>T | |
| NG_012250.2:g.45768C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261733.7:c.1522-1889C>T MANE Select | ENSP00000261733.2:n.1522-1889C>T | |
| ENST00000261733.6:c.1522-1889C>T | ENSP00000261733.2:n.1522-1889C>T | |
| ENST00000416293.7:c.1381-1889C>T | ENSP00000403349.3:n.1381-1889C>T | |
| ENST00000548536.1:c.*1398-1889C>T | ENSP00000448179.1:n.*1398-1889C>T | |
| ENST00000549106.1:c.453-1889C>T | ||
| NM_000690.3:c.1522-1889C>T | NP_000681.2:n.1522-1889C>T | |
| NM_001204889.1:c.1381-1889C>T | NP_001191818.1:n.1381-1889C>T | |
| NM_000690.4:c.1522-1889C>T MANE Select | NP_000681.2:n.1522-1889C>T | |
| NM_001204889.2:c.1381-1889C>T | NP_001191818.1:n.1381-1889C>T |