Linked Data
dbSNP Id:
rs762969364
ExAC:
10:101590229 A / G
gnomAD v2:
10-101590229-A-G
gnomAD v3:
10-99830472-A-G
gnomAD v4:
10-99830472-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830472A>G , CM000672.2:g.99830472A>G | GRCh38 |
| NC_000010.10:g.101590229A>G , CM000672.1:g.101590229A>G | GRCh37 |
| NC_000010.9:g.101580219A>G | NCBI36 |
| NG_011798.1:g.52767A>G | |
| NG_011798.2:g.52875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2747+39A>G MANE Select | ENSP00000497274.1:n.2747+39A>G | |
| ENST00000370449.8:c.2747+39A>G | ENSP00000359478.4:n.2747+39A>G | |
| NM_000392.4:c.2747+39A>G | NP_000383.1:n.2747+39A>G | |
| XM_006717630.2:c.2051+39A>G | XP_006717693.1:n.2051+39A>G | |
| XM_011539291.1:c.2747+39A>G | XP_011537593.1:n.2747+39A>G | |
| XR_945604.1:n.2936+39A>G | ||
| XR_945605.1:n.2938+39A>G | ||
| NM_000392.5:c.2747+39A>G MANE Select | NP_000383.2:n.2747+39A>G | |
| XM_006717630.3:c.2051+39A>G | XP_006717693.1:n.2051+39A>G | |
| XM_011539291.3:c.2747+39A>G | XP_011537593.1:n.2747+39A>G | |
| XR_945604.3:n.2990+39A>G | ||
| XR_945605.3:n.2990+39A>G |