Linked Data
dbSNP Id:
rs763360090
ExAC:
12:102164369 A / C
gnomAD v2:
12-102164369-A-C
gnomAD v4:
12-101770591-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770591A>C , CM000674.2:g.101770591A>C | GRCh38 |
| NC_000012.11:g.102164369A>C , CM000674.1:g.102164369A>C | GRCh37 |
| NC_000012.10:g.100688500A>C | NCBI36 |
| NG_021243.1:g.65277T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.934-6T>G MANE Select | ENSP00000299314.7:n.934-6T>G | |
| ENST00000299314.11:c.934-6T>G | ENSP00000299314.7:n.934-6T>G | |
| ENST00000549940.5:c.934-6T>G | ENSP00000449150.1:n.934-6T>G | |
| NM_024312.4:c.934-6T>G | NP_077288.2:n.934-6T>G | |
| XM_006719593.2:c.934-6T>G | XP_006719656.1:n.934-6T>G | |
| XM_011538731.1:c.853-6T>G | XP_011537033.1:n.853-6T>G | |
| XM_006719593.3:c.934-6T>G | XP_006719656.1:n.934-6T>G | |
| XM_011538731.2:c.853-6T>G | XP_011537033.1:n.853-6T>G | |
| XM_017019961.1:c.718-6T>G | XP_016875450.1:n.718-6T>G | |
| XM_017019962.2:c.-300T>G | XP_016875451.1:n.-300T>G | |
| NM_024312.5:c.934-6T>G MANE Select | NP_077288.2:n.934-6T>G |