Linked Data
ClinVar Variation Id:
36178
ClinVar RCV Id:
RCV002281721
dbSNP Id:
rs193922266
ERepo:
CA213719/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145608A>C , CM000669.2:g.44145608A>C | GRCh38 |
| NC_000007.13:g.44185207A>C , CM000669.1:g.44185207A>C | GRCh37 |
| NC_000007.12:g.44151732A>C | NCBI36 |
| NG_008847.1:g.48816T>G | |
| NG_008847.2:g.57563T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1140T>G | ENSP00000379142.4:n.*1140T>G | |
| ENST00000616242.5:c.*262T>G | ENSP00000482149.2:n.*262T>G | |
| ENST00000683378.1:n.368T>G | ||
| ENST00000336642.9:c.176T>G | ENSP00000338009.5:p.Met59Arg | |
| ENST00000345378.7:c.1145T>G | ENSP00000223366.2:p.Met382Arg | |
| ENST00000403799.8:c.1142T>G MANE Select | ENSP00000384247.3:p.Met381Arg | |
| ENST00000671824.1:c.1205T>G | ENSP00000500264.1:p.Met402Arg | |
| ENST00000672743.1:n.154T>G | ||
| ENST00000673284.1:c.1142T>G | ENSP00000499852.1:p.Met381Arg | |
| ENST00000336642.8:c.194T>G | ENSP00000338009.4:p.Met65Arg | |
| ENST00000345378.6:c.1145T>G | ENSP00000223366.2:p.Met382Arg | |
| ENST00000395796.7:c.1139T>G | ENSP00000379142.3:p.Met380Arg | |
| ENST00000403799.7:c.1142T>G | ENSP00000384247.3:p.Met381Arg | |
| ENST00000437084.1:c.1091T>G | ENSP00000402840.1:p.Met364Arg | |
| ENST00000459642.1:n.522T>G | ||
| ENST00000616242.4:c.1139T>G | ENSP00000482149.1:p.Met380Arg | |
| NM_000162.3:c.1142T>G | NP_000153.1:p.Met381Arg | |
| NM_033507.1:c.1145T>G | NP_277042.1:p.Met382Arg | |
| NM_033508.1:c.1139T>G | NP_277043.1:p.Met380Arg | |
| NM_000162.4:c.1142T>G | NP_000153.1:p.Met381Arg | |
| NM_001354800.1:c.1142T>G | NP_001341729.1:p.Met381Arg | |
| NM_001354801.1:c.131T>G | NP_001341730.1:p.Met44Arg | |
| NM_001354802.1:c.2T>G | NP_001341731.1:p.Met1Arg | |
| NM_001354803.1:c.176T>G | NP_001341732.1:p.Met59Arg | |
| NM_033507.2:c.1145T>G | NP_277042.1:p.Met382Arg | |
| NM_033508.2:c.1139T>G | NP_277043.1:p.Met380Arg | |
| XM_024446707.1:c.2T>G | XP_024302475.1:p.Met1Arg | |
| NM_000162.5:c.1142T>G MANE Select | NP_000153.1:p.Met381Arg | |
| NM_033507.3:c.1145T>G | NP_277042.1:p.Met382Arg | |
| NM_033508.3:c.1139T>G | NP_277043.1:p.Met380Arg | |
| NM_001354803.2:c.176T>G | NP_001341732.1:p.Met59Arg |