Linked Data
dbSNP Id:
rs972131793
gnomAD v4:
17-1650721-C-G
MyVariant Identifiers:
chr17:g.1650721C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650721C>G , CM000679.2:g.1650721C>G | GRCh38 |
| NC_000017.10:g.1554015C>G , CM000679.1:g.1554015C>G | GRCh37 |
| NC_000017.9:g.1500765C>G | NCBI36 |
| NG_009118.1:g.39162G>C | |
| NG_033061.1:g.4378G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.*81G>C | ENSP00000460849.2:n.*81G>C | |
| ENST00000703537.1:c.2837G>C | ||
| ENST00000703538.1:c.*6812G>C | ENSP00000515361.1:n.*6812G>C | |
| ENST00000703539.1:n.3403G>C | ||
| ENST00000703540.1:c.*81G>C | ENSP00000515362.1:n.*81G>C | |
| ENST00000304992.11:c.*81G>C MANE Select | ENSP00000304350.6:n.*81G>C | |
| ENST00000304992.10:c.*81G>C | ENSP00000304350.6:n.*81G>C | |
| ENST00000571958.1:c.288G>C | ||
| ENST00000572621.5:c.*81G>C | ENSP00000460348.1:n.*81G>C | |
| NM_006445.3:c.*81G>C | NP_006436.3:n.*81G>C | |
| XM_024450537.1:c.*81G>C | XP_024306305.1:n.*81G>C | |
| NM_006445.4:c.*81G>C MANE Select | NP_006436.3:n.*81G>C |