Linked Data
dbSNP Id:
rs2256774
gnomAD v2:
10-6097165-T-C
gnomAD v3:
10-6055202-T-C
gnomAD v4:
10-6055202-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6055202T>C , CM000672.2:g.6055202T>C | GRCh38 |
| NC_000010.10:g.6097165T>C , CM000672.1:g.6097165T>C | GRCh37 |
| NC_000010.9:g.6137171T>C | NCBI36 |
| NG_007403.1:g.12108A>G , LRG_73:g.12108A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447847.2:c.64+6886A>G | ENSP00000402024.2:n.64+6886A>G | |
| ENST00000697424.1:c.64+6886A>G | ENSP00000513307.1:n.64+6886A>G | |
| ENST00000379959.8:c.64+6886A>G MANE Select | ENSP00000369293.3:n.64+6886A>G | |
| ENST00000644262.1:n.279+6890A>G | ||
| ENST00000256876.10:c.64+6886A>G | ENSP00000256876.6:n.64+6886A>G | |
| ENST00000379954.5:c.64+6886A>G | ENSP00000369287.1:n.64+6886A>G | |
| ENST00000379959.7:c.64+6886A>G | ENSP00000369293.3:n.64+6886A>G | |
| NM_000417.2:c.64+6886A>G , LRG_73t1:c.64+6886A>G | NP_000408.1:n.64+6886A>G | |
| NM_001308242.1:c.64+6886A>G | NP_001295171.1:n.64+6886A>G | |
| NM_001308243.1:c.64+6886A>G | NP_001295172.1:n.64+6886A>G | |
| NM_000417.3:c.64+6886A>G MANE Select | NP_000408.1:n.64+6886A>G | |
| NM_001308242.2:c.64+6886A>G | NP_001295171.1:n.64+6886A>G | |
| NM_001308243.2:c.64+6886A>G | NP_001295172.1:n.64+6886A>G |