Linked Data
dbSNP Id:
rs8177412
gnomAD v2:
5-150400087-T-C
gnomAD v3:
5-151020526-T-C
gnomAD v4:
5-151020526-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151020526T>C , CM000667.2:g.151020526T>C | GRCh38 |
| NC_000005.9:g.150400087T>C , CM000667.1:g.150400087T>C | GRCh37 |
| NC_000005.8:g.150380280T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622181.4:c.-129T>C | ENSP00000484258.1:n.-129T>C | |
| NM_002084.3:c.-129T>C | NP_002075.2:n.-129T>C | |
| NM_001329790.1:c.-129T>C | NP_001316719.1:n.-129T>C | |
| NM_002084.4:c.-129T>C | NP_002075.2:n.-129T>C |