Linked Data
dbSNP Id:
rs1555444388
gnomAD v2:
14-105996137-C-T
gnomAD v4:
14-105529800-C-T
MyVariant Identifiers:
chr14:g.105996137C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105529800C>T , CM000676.2:g.105529800C>T | GRCh38 |
| NC_000014.8:g.105996137C>T , CM000676.1:g.105996137C>T | GRCh37 |
| NC_000014.7:g.105067182C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392519.7:c.*6C>T MANE Select | ENSP00000376304.2:n.*6C>T | |
| ENST00000392519.6:c.*6C>T | ENSP00000376304.2:n.*6C>T | |
| ENST00000431372.1:c.*6C>T | ENSP00000407456.1:n.*6C>T | |
| NM_025268.2:c.*6C>T | NP_079544.1:n.*6C>T | |
| XM_005268101.2:c.*6C>T | XP_005268158.1:n.*6C>T | |
| XM_006720261.2:c.*6C>T | XP_006720324.1:n.*6C>T | |
| XM_011537185.1:c.*6C>T | XP_011535487.1:n.*6C>T | |
| XM_011537186.1:c.*6C>T | XP_011535488.1:n.*6C>T | |
| NM_001331238.1:c.*6C>T | NP_001318167.1:n.*6C>T | |
| NM_025268.3:c.*6C>T | NP_079544.1:n.*6C>T | |
| XM_006720261.3:c.*6C>T | XP_006720324.1:n.*6C>T | |
| NM_025268.4:c.*6C>T MANE Select | NP_079544.1:n.*6C>T | |
| NM_001331238.2:c.*6C>T | NP_001318167.1:n.*6C>T |