Linked Data
dbSNP Id:
rs2669845
gnomAD v2:
3-39321218-T-C
gnomAD v3:
3-39279727-T-C
gnomAD v4:
3-39279727-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39279727T>C , CM000665.2:g.39279727T>C | GRCh38 |
| NC_000003.11:g.39321218T>C , CM000665.1:g.39321218T>C | GRCh37 |
| NC_000003.10:g.39296222T>C | NCBI36 |
| NG_016362.1:g.7009A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399220.3:c.-10+227A>G MANE Select | ENSP00000382166.3:n.-10+227A>G | |
| ENST00000358309.3:c.87+1882A>G | ENSP00000351059.3:n.87+1882A>G | |
| ENST00000399220.2:c.-10+227A>G | ENSP00000382166.2:n.-10+227A>G | |
| ENST00000412814.1:c.-10+1316A>G | ENSP00000408835.1:n.-10+1316A>G | |
| ENST00000435290.1:c.-10+522A>G | ENSP00000394960.1:n.-10+522A>G | |
| ENST00000541347.5:c.-10+1316A>G | ENSP00000439140.1:n.-10+1316A>G | |
| ENST00000542107.5:c.-10+522A>G | ENSP00000444928.1:n.-10+522A>G | |
| NM_001171171.1:c.-10+1316A>G | NP_001164642.1:n.-10+1316A>G | |
| NM_001171172.1:c.-10+522A>G | NP_001164643.1:n.-10+522A>G | |
| NM_001171174.1:c.87+1882A>G | NP_001164645.1:n.87+1882A>G | |
| NM_001337.3:c.-10+227A>G | NP_001328.1:n.-10+227A>G | |
| NM_001337.4:c.-10+227A>G MANE Select | NP_001328.1:n.-10+227A>G | |
| NM_001171171.2:c.-10+1316A>G | NP_001164642.1:n.-10+1316A>G | |
| NM_001171172.2:c.-10+522A>G | NP_001164643.1:n.-10+522A>G |