Linked Data
dbSNP Id:
rs2134294
gnomAD v2:
6-55134247-T-C
gnomAD v3:
6-55269449-T-C
gnomAD v4:
6-55269449-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55269449T>C , CM000668.2:g.55269449T>C | GRCh38 |
| NC_000006.11:g.55134247T>C , CM000668.1:g.55134247T>C | GRCh37 |
| NC_000006.10:g.55242206T>C | NCBI36 |
| NG_012447.1:g.100177T>C | |
| NG_012447.2:g.167990T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370862.4:c.762+5627T>C MANE Select | ENSP00000359899.3:n.762+5627T>C | |
| ENST00000370862.3:c.762+5627T>C | ENSP00000359899.3:n.762+5627T>C | |
| ENST00000615358.4:c.762+5627T>C | ENSP00000477548.1:n.762+5627T>C | |
| NM_001526.3:c.762+5627T>C | NP_001517.2:n.762+5627T>C | |
| XM_011514542.1:c.567+5627T>C | XP_011512844.1:n.567+5627T>C | |
| NM_001526.4:c.762+5627T>C | NP_001517.2:n.762+5627T>C | |
| XM_017010798.1:c.762+5627T>C | XP_016866287.1:n.762+5627T>C | |
| NM_001384272.1:c.762+5627T>C MANE Select | NP_001371201.1:n.762+5627T>C | |
| NM_001526.5:c.762+5627T>C | NP_001517.2:n.762+5627T>C |