Linked Data
dbSNP Id:
rs2148445070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46399309T>C , CM000663.2:g.46399309T>C | GRCh38 |
| NC_000001.10:g.46864981T>C , CM000663.1:g.46864981T>C | GRCh37 |
| NC_000001.9:g.46637568T>C | NCBI36 |
| NG_012195.1:g.10043T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243167.9:c.196-2782T>C MANE Select | ENSP00000243167.8:n.196-2782T>C | |
| ENST00000243167.8:c.196-2782T>C | ENSP00000243167.8:n.196-2782T>C | |
| ENST00000468718.5:n.216-2782T>C | ||
| ENST00000493735.5:n.174-2782T>C | ||
| NM_001441.2:c.196-2782T>C | NP_001432.2:n.196-2782T>C | |
| NM_001441.3:c.196-2782T>C MANE Select | NP_001432.2:n.196-2782T>C |