Linked Data
dbSNP Id:
rs1478607996
gnomAD v2:
2-68598800-G-T
gnomAD v3:
2-68371668-G-T
gnomAD v4:
2-68371668-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68371668G>T , CM000664.2:g.68371668G>T | GRCh38 |
| NC_000002.11:g.68598800G>T , CM000664.1:g.68598800G>T | GRCh37 |
| NC_000002.10:g.68452304G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234313.8:c.42+6275G>T MANE Select | ENSP00000234313.7:n.42+6275G>T | |
| ENST00000234313.7:c.42+6275G>T | ENSP00000234313.7:n.42+6275G>T | |
| NM_002664.2:c.42+6275G>T | NP_002655.2:n.42+6275G>T | |
| XM_011532916.1:c.42+6275G>T | XP_011531218.1:n.42+6275G>T | |
| NM_002664.3:c.42+6275G>T MANE Select | NP_002655.2:n.42+6275G>T |