Linked Data
dbSNP Id:
rs1223471159
gnomAD v2:
16-57002789-T-C
gnomAD v3:
16-56968877-T-C
gnomAD v4:
16-56968877-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56968877T>C , CM000678.2:g.56968877T>C | GRCh38 |
| NC_000016.9:g.57002789T>C , CM000678.1:g.57002789T>C | GRCh37 |
| NC_000016.8:g.55560290T>C | NCBI36 |
| NG_008952.1:g.11955T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200676.8:c.234-509T>C MANE Select | ENSP00000200676.3:n.234-509T>C | |
| ENST00000200676.7:c.234-509T>C | ENSP00000200676.3:n.234-509T>C | |
| ENST00000379780.6:c.234-509T>C | ENSP00000369106.2:n.234-509T>C | |
| ENST00000566128.1:c.39-509T>C | ENSP00000456276.1:n.39-509T>C | |
| ENST00000569082.1:n.232-509T>C | ||
| NM_000078.2:c.234-509T>C | NP_000069.2:n.234-509T>C | |
| NM_001286085.1:c.234-509T>C | NP_001273014.1:n.234-509T>C | |
| XM_006721124.2:c.234-509T>C | XP_006721187.1:n.234-509T>C | |
| XM_006721124.3:c.234-509T>C | XP_006721187.1:n.234-509T>C | |
| NM_000078.3:c.234-509T>C MANE Select | NP_000069.2:n.234-509T>C | |
| NM_001286085.2:c.234-509T>C | NP_001273014.1:n.234-509T>C |