Linked Data
dbSNP Id:
rs1312343436
gnomAD v2:
1-45973079-G-C
gnomAD v3:
1-45507407-G-C
gnomAD v4:
1-45507407-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45507407G>C , CM000663.2:g.45507407G>C | GRCh38 |
| NC_000001.10:g.45973079G>C , CM000663.1:g.45973079G>C | GRCh37 |
| NC_000001.9:g.45745666G>C | NCBI36 |
| NG_013378.1:g.12224G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.133G>C MANE Select | ENSP00000383840.4:p.Gly45Arg | |
| ENST00000401061.8:c.133G>C | ENSP00000383840.4:p.Gly45Arg | |
| ENST00000616135.1:c.-39G>C | ENSP00000478859.1:n.-39G>C | |
| NM_015506.2:c.133G>C | NP_056321.2:p.Gly45Arg | |
| XM_005270724.3:c.82-805G>C | XP_005270781.1:n.82-805G>C | |
| XM_011541204.1:c.-39G>C | XP_011539506.1:n.-39G>C | |
| NM_001330540.1:c.-39G>C | NP_001317469.1:n.-39G>C | |
| XM_005270724.5:c.82-805G>C | XP_005270781.1:n.82-805G>C | |
| NM_015506.3:c.133G>C MANE Select | NP_056321.2:p.Gly45Arg | |
| NM_001330540.2:c.-39G>C | NP_001317469.1:n.-39G>C |