Linked Data
dbSNP Id:
rs1357101134
gnomAD v2:
11-2465744-T-G
gnomAD v3:
11-2444514-T-G
gnomAD v4:
11-2444514-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444514T>G , CM000673.2:g.2444514T>G | GRCh38 |
| NC_000011.9:g.2465744T>G , CM000673.1:g.2465744T>G | GRCh37 |
| NC_000011.8:g.2422320T>G | NCBI36 |
| NG_008935.1:g.4524T>G , LRG_287:g.4524T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696290.1:c.-1769A>C MANE Select | ENSP00000512529.1:n.-1769A>C | |
| XR_930984.1:n.57A>C | ||
| NM_014555.4:c.-1769A>C MANE Select | NP_055370.1:n.-1769A>C |