Linked Data
dbSNP Id:
rs207936
gnomAD v2:
2-217040033-C-T
gnomAD v3:
2-216175310-C-T
gnomAD v4:
2-216175310-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216175310C>T , CM000664.2:g.216175310C>T | GRCh38 |
| NC_000002.11:g.217040033C>T , CM000664.1:g.217040033C>T | GRCh37 |
| NC_000002.10:g.216748278C>T | NCBI36 |
| NG_029780.1:g.71014C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392132.7:c.1834+13262C>T MANE Select | ENSP00000375977.2:n.1834+13262C>T | |
| ENST00000392132.6:c.1834+13262C>T | ENSP00000375977.2:n.1834+13262C>T | |
| ENST00000392133.7:c.1834+13262C>T | ENSP00000375978.3:n.1834+13262C>T | |
| ENST00000441511.2:n.723G>A | ||
| ENST00000460284.5:n.2376+13262C>T | ||
| NM_021141.3:c.1834+13262C>T | NP_066964.1:n.1834+13262C>T | |
| NM_021141.4:c.1834+13262C>T MANE Select | NP_066964.1:n.1834+13262C>T |