Linked Data
ClinVar Variation Id:
1427817
ClinVar RCV Id:
RCV001933897
dbSNP Id:
rs367884272
ExAC:
5:56177598 G / A
gnomAD v2:
5-56177598-G-A
gnomAD v3:
5-56881771-G-A
gnomAD v4:
5-56881771-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881771G>A , CM000667.2:g.56881771G>A | GRCh38 |
| NC_000005.9:g.56177598G>A , CM000667.1:g.56177598G>A | GRCh37 |
| NC_000005.8:g.56213355G>A | NCBI36 |
| NG_031884.1:g.71699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2571G>A MANE Select | ENSP00000382423.3:p.Met857Ile | |
| ENST00000399503.3:c.2571G>A | ENSP00000382423.3:p.Met857Ile | |
| NM_005921.1:c.2571G>A | NP_005912.1:p.Met857Ile | |
| XM_005248519.3:c.2193G>A | XP_005248576.2:p.Met731Ile | |
| XM_011543406.1:c.2316G>A | XP_011541708.1:p.Met772Ile | |
| XM_011543407.1:c.2292G>A | XP_011541709.1:p.Met764Ile | |
| XM_011543408.1:c.2571G>A | XP_011541710.1:p.Met857Ile | |
| XM_017009484.1:c.2160G>A | XP_016864973.1:p.Met720Ile | |
| XM_017009485.1:c.2082G>A | XP_016864974.1:p.Met694Ile | |
| XR_001742068.2:n.2602G>A | ||
| NM_005921.2:c.2571G>A MANE Select | NP_005912.1:p.Met857Ile |