Linked Data
dbSNP Id:
rs759901280
ExAC:
10:101590226 T / G
gnomAD v2:
10-101590226-T-G
gnomAD v4:
10-99830469-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830469T>G , CM000672.2:g.99830469T>G | GRCh38 |
| NC_000010.10:g.101590226T>G , CM000672.1:g.101590226T>G | GRCh37 |
| NC_000010.9:g.101580216T>G | NCBI36 |
| NG_011798.1:g.52764T>G | |
| NG_011798.2:g.52872T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2747+36T>G MANE Select | ENSP00000497274.1:n.2747+36T>G | |
| ENST00000370449.8:c.2747+36T>G | ENSP00000359478.4:n.2747+36T>G | |
| NM_000392.4:c.2747+36T>G | NP_000383.1:n.2747+36T>G | |
| XM_006717630.2:c.2051+36T>G | XP_006717693.1:n.2051+36T>G | |
| XM_011539291.1:c.2747+36T>G | XP_011537593.1:n.2747+36T>G | |
| XR_945604.1:n.2936+36T>G | ||
| XR_945605.1:n.2938+36T>G | ||
| NM_000392.5:c.2747+36T>G MANE Select | NP_000383.2:n.2747+36T>G | |
| XM_006717630.3:c.2051+36T>G | XP_006717693.1:n.2051+36T>G | |
| XM_011539291.3:c.2747+36T>G | XP_011537593.1:n.2747+36T>G | |
| XR_945604.3:n.2990+36T>G | ||
| XR_945605.3:n.2990+36T>G |