Linked Data
dbSNP Id:
rs201652897
gnomAD v2:
14-96671200-C-T
gnomAD v3:
14-96204863-C-T
gnomAD v4:
14-96204863-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204863C>T , CM000676.2:g.96204863C>T | GRCh38 |
| NC_000014.8:g.96671200C>T , CM000676.1:g.96671200C>T | GRCh37 |
| NC_000014.7:g.95740953C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554311.2:c.-136C>T MANE Select | ENSP00000450482.1:n.-136C>T | |
| ENST00000539359.1:c.-378C>T | ENSP00000438376.1:n.-378C>T | |
| ENST00000542454.2:c.-2904C>T | ENSP00000439459.2:n.-2904C>T | |
| ENST00000553811.1:c.-131C>T | ENSP00000450984.1:n.-131C>T | |
| ENST00000554311.1:c.-136C>T | ENSP00000450482.1:n.-136C>T | |
| NM_000623.3:c.-131C>T | NP_000614.1:n.-131C>T | |
| NM_000623.4:c.-131C>T | NP_000614.1:n.-131C>T | |
| NM_001379692.1:c.-136C>T MANE Select | NP_001366621.1:n.-136C>T |