Linked Data
dbSNP Id:
rs1641220996
gnomAD v3:
1-1512337-G-A
gnomAD v4:
1-1512337-G-A
MyVariant Identifiers:
chr1:g.1447717G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1512337G>A , CM000663.2:g.1512337G>A | GRCh38 |
| NC_000001.10:g.1447717G>A , CM000663.1:g.1447717G>A | GRCh37 |
| NC_000001.9:g.1437580G>A | NCBI36 |
| NG_053035.1:g.5195G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378756.8:c.69G>A MANE Select | ENSP00000368031.3:p.Pro23= | |
| ENST00000672388.1:n.173G>A | ||
| ENST00000378755.9:c.69G>A | ENSP00000368030.5:p.Pro23= | |
| ENST00000378756.7:c.69G>A | ENSP00000368031.3:p.Pro23= | |
| NM_001170535.1:c.69G>A | NP_001164006.1:p.Pro23= | |
| NM_018188.3:c.69G>A | NP_060658.3:p.Pro23= | |
| NM_001170535.2:c.69G>A | NP_001164006.1:p.Pro23= | |
| NM_018188.4:c.69G>A | NP_060658.3:p.Pro23= | |
| XM_024448098.1:c.69G>A | XP_024303866.1:p.Pro23= | |
| XR_001737282.1:n.195G>A | ||
| XR_002956997.1:n.195G>A | ||
| NM_001170535.3:c.69G>A MANE Select | NP_001164006.1:p.Pro23= | |
| NM_018188.5:c.69G>A | NP_060658.3:p.Pro23= |