Linked Data
dbSNP Id:
rs973824994
gnomAD v2:
16-31500409-C-T
gnomAD v3:
16-31489088-C-T
gnomAD v4:
16-31489088-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31489088C>T , CM000678.2:g.31489088C>T | GRCh38 |
| NC_000016.9:g.31500409C>T , CM000678.1:g.31500409C>T | GRCh37 |
| NC_000016.8:g.31407910C>T | NCBI36 |
| NG_012892.1:g.10971C>T | |
| NG_033149.1:g.24332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330498.4:c.1450-35C>T MANE Select | ENSP00000327943.3:n.1450-35C>T | |
| ENST00000330498.3:c.1450-35C>T | ENSP00000327943.3:n.1450-35C>T | |
| ENST00000419665.6:c.1130-35C>T | ENSP00000410601.2:n.1130-35C>T | |
| ENST00000568188.1:n.821-35C>T | ||
| ENST00000568891.1:n.282-35C>T | ||
| NM_003041.3:c.1450-35C>T | NP_003032.1:n.1450-35C>T | |
| NR_130783.1:n.1149-35C>T | ||
| XM_006721072.2:c.1471-35C>T | XP_006721135.2:n.1471-35C>T | |
| XM_006721073.2:c.1302-35C>T | XP_006721136.2:n.1302-35C>T | |
| XM_006721072.4:c.1471-35C>T | XP_006721135.2:n.1471-35C>T | |
| XM_024450402.1:c.1151-35C>T | XP_024306170.1:n.1151-35C>T | |
| NM_003041.4:c.1450-35C>T MANE Select | NP_003032.1:n.1450-35C>T | |
| NR_130783.2:n.1144-35C>T |