Linked Data
dbSNP Id:
rs1736858568
gnomAD v3:
4-177437406-A-G
gnomAD v4:
4-177437406-A-G
MyVariant Identifiers:
chr4:g.178358560A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177437406A>G , CM000666.2:g.177437406A>G | GRCh38 |
| NC_000004.11:g.178358560A>G , CM000666.1:g.178358560A>G | GRCh37 |
| NC_000004.10:g.178595554A>G | NCBI36 |
| NG_011845.2:g.10098T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.621T>C MANE Select | ENSP00000264595.2:p.Ile207= | |
| ENST00000264595.6:c.621T>C | ENSP00000264595.2:p.Ile207= | |
| ENST00000502310.5:c.276T>C | ENSP00000423798.1:p.Ile92= | |
| ENST00000506853.5:n.655T>C | ||
| ENST00000510635.1:c.317T>C | ||
| ENST00000510955.5:n.542T>C | ||
| NM_000027.3:c.621T>C | NP_000018.2:p.Ile207= | |
| NM_001171988.1:c.621T>C | NP_001165459.1:p.Ile207= | |
| NR_033655.1:n.749T>C | ||
| XM_006714123.2:c.621T>C | XP_006714186.1:p.Ile207= | |
| XR_001741155.2:n.715T>C | ||
| NM_000027.4:c.621T>C MANE Select | NP_000018.2:p.Ile207= | |
| NM_001171988.2:c.621T>C | NP_001165459.1:p.Ile207= | |
| NR_033655.2:n.683T>C |