Linked Data
dbSNP Id:
rs908879509
gnomAD v2:
5-139712791-T-C
gnomAD v3:
5-140333206-T-C
gnomAD v4:
5-140333206-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140333206T>C , CM000667.2:g.140333206T>C | GRCh38 |
| NC_000005.9:g.139712791T>C , CM000667.1:g.139712791T>C | GRCh37 |
| NC_000005.8:g.139692975T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230990.7:c.*1093A>G MANE Select | ENSP00000230990.6:n.*1093A>G | |
| ENST00000230990.6:c.*1093A>G | ENSP00000230990.6:n.*1093A>G | |
| NM_001945.2:c.*1093A>G | NP_001936.1:n.*1093A>G | |
| NM_001945.3:c.*1093A>G MANE Select | NP_001936.1:n.*1093A>G |