Linked Data
dbSNP Id:
rs1301380436
gnomAD v2:
1-67519517-A-G
gnomAD v3:
1-67053834-A-G
gnomAD v4:
1-67053834-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053834A>G , CM000663.2:g.67053834A>G | GRCh38 |
| NC_000001.10:g.67519517A>G , CM000663.1:g.67519517A>G | GRCh37 |
| NC_000001.9:g.67292105A>G | NCBI36 |
| NG_012933.1:g.5564T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.180T>C MANE Select | ENSP00000235345.5:p.Asn60= | |
| ENST00000235345.5:c.180T>C | ENSP00000235345.5:p.Asn60= | |
| NM_015139.2:c.180T>C | NP_055954.1:p.Asn60= | |
| XM_006710478.1:c.180T>C | XP_006710541.1:p.Asn60= | |
| XM_011541070.1:c.180T>C | XP_011539372.1:p.Asn60= | |
| XM_006710478.2:c.180T>C | XP_006710541.1:p.Asn60= | |
| XM_011541070.2:c.180T>C | XP_011539372.1:p.Asn60= | |
| XR_001737057.2:n.590T>C | ||
| XR_001737058.2:n.583T>C | ||
| NM_015139.3:c.180T>C MANE Select | NP_055954.1:p.Asn60= |