Linked Data
dbSNP Id:
rs770462323
ExAC:
1:215940055 A / C
gnomAD v2:
1-215940055-A-C
gnomAD v4:
1-215766713-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766713A>C , CM000663.2:g.215766713A>C | GRCh38 |
| NC_000001.10:g.215940055A>C , CM000663.1:g.215940055A>C | GRCh37 |
| NC_000001.9:g.214006678A>C | NCBI36 |
| NG_009497.1:g.661684T>G | |
| NG_009497.2:g.661736T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11015T>G MANE Select | ENSP00000305941.3:p.Phe3672Cys | |
| ENST00000674083.1:c.11015T>G | ENSP00000501296.1:p.Phe3672Cys | |
| ENST00000307340.7:c.11015T>G | ENSP00000305941.3:p.Phe3672Cys | |
| NM_206933.2:c.11015T>G | NP_996816.2:p.Phe3672Cys | |
| NM_206933.3:c.11015T>G | NP_996816.2:p.Phe3672Cys | |
| NM_206933.4:c.11015T>G MANE Select | NP_996816.3:p.Phe3672Cys |