Linked Data
dbSNP Id:
rs3740066
ExAC:
10:101604207 C / G
gnomAD v2:
10-101604207-C-G
gnomAD v3:
10-99844450-C-G
gnomAD v4:
10-99844450-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844450C>G , CM000672.2:g.99844450C>G | GRCh38 |
| NC_000010.10:g.101604207C>G , CM000672.1:g.101604207C>G | GRCh37 |
| NC_000010.9:g.101594197C>G | NCBI36 |
| NG_011798.1:g.66745C>G | |
| NG_011798.2:g.66853C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.3972C>G MANE Select | ENSP00000497274.1:p.Ile1324Met | |
| ENST00000649459.1:n.320C>G | ||
| ENST00000370449.8:c.3972C>G | ENSP00000359478.4:p.Ile1324Met | |
| NM_000392.4:c.3972C>G | NP_000383.1:p.Ile1324Met | |
| XM_006717630.2:c.3276C>G | XP_006717693.1:p.Ile1092Met | |
| XR_945604.1:n.4161C>G | ||
| XR_945605.1:n.4036C>G | ||
| NM_000392.5:c.3972C>G MANE Select | NP_000383.2:p.Ile1324Met | |
| XM_006717630.3:c.3276C>G | XP_006717693.1:p.Ile1092Met | |
| XR_945604.3:n.4215C>G | ||
| XR_945605.3:n.4088C>G |