Linked Data
dbSNP Id:
rs771131882
ExAC:
7:44185208 T / G
gnomAD v2:
7-44185208-T-G
gnomAD v4:
7-44145609-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145609T>G , CM000669.2:g.44145609T>G | GRCh38 |
| NC_000007.13:g.44185208T>G , CM000669.1:g.44185208T>G | GRCh37 |
| NC_000007.12:g.44151733T>G | NCBI36 |
| NG_008847.1:g.48815A>C | |
| NG_008847.2:g.57562A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1139A>C | ENSP00000379142.4:n.*1139A>C | |
| ENST00000616242.5:c.*261A>C | ENSP00000482149.2:n.*261A>C | |
| ENST00000683378.1:n.367A>C | ||
| ENST00000336642.9:c.175A>C | ENSP00000338009.5:p.Met59Leu | |
| ENST00000345378.7:c.1144A>C | ENSP00000223366.2:p.Met382Leu | |
| ENST00000403799.8:c.1141A>C MANE Select | ENSP00000384247.3:p.Met381Leu | |
| ENST00000671824.1:c.1204A>C | ENSP00000500264.1:p.Met402Leu | |
| ENST00000672743.1:n.153A>C | ||
| ENST00000673284.1:c.1141A>C | ENSP00000499852.1:p.Met381Leu | |
| ENST00000336642.8:c.193A>C | ENSP00000338009.4:p.Met65Leu | |
| ENST00000345378.6:c.1144A>C | ENSP00000223366.2:p.Met382Leu | |
| ENST00000395796.7:c.1138A>C | ENSP00000379142.3:p.Met380Leu | |
| ENST00000403799.7:c.1141A>C | ENSP00000384247.3:p.Met381Leu | |
| ENST00000437084.1:c.1090A>C | ENSP00000402840.1:p.Met364Leu | |
| ENST00000459642.1:n.521A>C | ||
| ENST00000616242.4:c.1138A>C | ENSP00000482149.1:p.Met380Leu | |
| NM_000162.3:c.1141A>C | NP_000153.1:p.Met381Leu | |
| NM_033507.1:c.1144A>C | NP_277042.1:p.Met382Leu | |
| NM_033508.1:c.1138A>C | NP_277043.1:p.Met380Leu | |
| NM_000162.4:c.1141A>C | NP_000153.1:p.Met381Leu | |
| NM_001354800.1:c.1141A>C | NP_001341729.1:p.Met381Leu | |
| NM_001354801.1:c.130A>C | NP_001341730.1:p.Met44Leu | |
| NM_001354802.1:c.1A>C | NP_001341731.1:p.Met1Leu | |
| NM_001354803.1:c.175A>C | NP_001341732.1:p.Met59Leu | |
| NM_033507.2:c.1144A>C | NP_277042.1:p.Met382Leu | |
| NM_033508.2:c.1138A>C | NP_277043.1:p.Met380Leu | |
| XM_024446707.1:c.1A>C | XP_024302475.1:p.Met1Leu | |
| NM_000162.5:c.1141A>C MANE Select | NP_000153.1:p.Met381Leu | |
| NM_033507.3:c.1144A>C | NP_277042.1:p.Met382Leu | |
| NM_033508.3:c.1138A>C | NP_277043.1:p.Met380Leu | |
| NM_001354803.2:c.175A>C | NP_001341732.1:p.Met59Leu |