Linked Data
dbSNP Id:
rs758178066
ExAC:
1:68895639 T / G
gnomAD v2:
1-68895639-T-G
gnomAD v3:
1-68429956-T-G
gnomAD v4:
1-68429956-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429956T>G , CM000663.2:g.68429956T>G | GRCh38 |
| NC_000001.10:g.68895639T>G , CM000663.1:g.68895639T>G | GRCh37 |
| NC_000001.9:g.68668227T>G | NCBI36 |
| NG_008472.1:g.25004A>C | |
| NG_008472.2:g.25004A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-29A>C MANE Select | ENSP00000262340.5:n.1451-29A>C | |
| ENST00000262340.5:c.1451-29A>C | ENSP00000262340.5:n.1451-29A>C | |
| NM_000329.2:c.1451-29A>C | NP_000320.1:n.1451-29A>C | |
| XM_017002027.1:c.1175-29A>C | XP_016857516.1:n.1175-29A>C | |
| NM_000329.3:c.1451-29A>C MANE Select | NP_000320.1:n.1451-29A>C |