Linked Data
dbSNP Id:
rs57122229
gnomAD v2:
10-101590293-C-T
gnomAD v3:
10-99830536-C-T
gnomAD v4:
10-99830536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830536C>T , CM000672.2:g.99830536C>T | GRCh38 |
| NC_000010.10:g.101590293C>T , CM000672.1:g.101590293C>T | GRCh37 |
| NC_000010.9:g.101580283C>T | NCBI36 |
| NG_011798.1:g.52831C>T | |
| NG_011798.2:g.52939C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2747+103C>T MANE Select | ENSP00000497274.1:n.2747+103C>T | |
| ENST00000370449.8:c.2747+103C>T | ENSP00000359478.4:n.2747+103C>T | |
| NM_000392.4:c.2747+103C>T | NP_000383.1:n.2747+103C>T | |
| XM_006717630.2:c.2051+103C>T | XP_006717693.1:n.2051+103C>T | |
| XM_011539291.1:c.2747+103C>T | XP_011537593.1:n.2747+103C>T | |
| XR_945604.1:n.2936+103C>T | ||
| XR_945605.1:n.2938+103C>T | ||
| NM_000392.5:c.2747+103C>T MANE Select | NP_000383.2:n.2747+103C>T | |
| XM_006717630.3:c.2051+103C>T | XP_006717693.1:n.2051+103C>T | |
| XM_011539291.3:c.2747+103C>T | XP_011537593.1:n.2747+103C>T | |
| XR_945604.3:n.2990+103C>T | ||
| XR_945605.3:n.2990+103C>T |