MyVariant.info:
GRCh37
chr6:g.31118511T>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31150734T>C , CM000668.2:g.31150734T>C | GRCh38 |
| NC_000006.11:g.31118511T>C , CM000668.1:g.31118511T>C | GRCh37 |
| NC_000006.10:g.31226490T>C | NCBI36 |
| NG_054878.1:g.12505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396268.8:c.1092A>G MANE Select | ENSP00000379566.3:p.Glu364= | |
| ENST00000652427.1:c.825A>G | ENSP00000498342.1:p.Glu275= | |
| ENST00000652535.1:c.825A>G | ENSP00000498479.1:p.Glu275= | |
| ENST00000376266.9:c.825A>G | ENSP00000365442.5:p.Glu275= | |
| ENST00000396263.6:c.825A>G | ENSP00000379561.2:p.Glu275= | |
| ENST00000396268.7:c.1092A>G | ENSP00000379566.3:p.Glu364= | |
| ENST00000451521.6:c.984A>G | ENSP00000401039.2:p.Glu328= | |
| ENST00000480060.5:n.93-1066A>G | ||
| ENST00000509552.5:n.966A>G | ||
| ENST00000512418.5:c.*278A>G | ENSP00000426883.1:n.*278A>G | |
| NM_001105563.1:c.984A>G | NP_001099033.1:p.Glu328= | |
| NM_001105564.1:c.1092A>G | NP_001099034.1:p.Glu364= | |
| NM_019052.3:c.825A>G | NP_061925.2:p.Glu275= | |
| XM_011514702.1:c.1011A>G | XP_011513004.1:p.Glu337= | |
| XM_011514703.1:c.825A>G | XP_011513005.1:p.Glu275= | |
| XM_011514704.1:c.717A>G | XP_011513006.1:p.Glu239= | |
| XM_011514705.1:c.717A>G | XP_011513007.1:p.Glu239= | |
| XM_011514706.1:c.825A>G | XP_011513008.1:p.Glu275= | |
| XM_011514702.2:c.1011A>G | XP_011513004.1:p.Glu337= | |
| XM_011514704.3:c.717A>G | XP_011513006.1:p.Glu239= | |
| XM_017010961.1:c.1119A>G | XP_016866450.1:p.Glu373= | |
| XM_017010962.2:c.825A>G | XP_016866451.1:p.Glu275= | |
| XM_017010963.1:c.825A>G | XP_016866452.1:p.Glu275= | |
| XM_017010964.1:c.825A>G | XP_016866453.1:p.Glu275= | |
| XM_017010965.1:c.825A>G | XP_016866454.1:p.Glu275= | |
| XM_017010966.1:c.825A>G | XP_016866455.1:p.Glu275= | |
| XM_017010967.1:c.825A>G | XP_016866456.1:p.Glu275= | |
| XM_017010968.1:c.825A>G | XP_016866457.1:p.Glu275= | |
| XM_017010969.1:c.717A>G | XP_016866458.1:p.Glu239= | |
| XM_017010970.1:c.-4A>G | XP_016866459.1:n.-4A>G | |
| XM_024446473.1:c.903A>G | XP_024302241.1:p.Glu301= | |
| NM_019052.4:c.825A>G | NP_061925.2:p.Glu275= | |
| NM_001105563.2:c.984A>G | NP_001099033.1:p.Glu328= | |
| NM_001105563.3:c.984A>G | NP_001099033.1:p.Glu328= | |
| NM_001105564.2:c.1092A>G MANE Select | NP_001099034.1:p.Glu364= | |
| NM_001394641.1:c.1119A>G | NP_001381570.1:p.Glu373= | |
| NM_001394642.1:c.825A>G | NP_001381571.1:p.Glu275= | |
| NM_001394643.1:c.825A>G | NP_001381572.1:p.Glu275= | |
| NM_001394644.1:c.825A>G | NP_001381573.1:p.Glu275= | |
| NM_001394646.1:c.825A>G | NP_001381575.1:p.Glu275= | |
| NM_001394647.1:c.747A>G | NP_001381576.1:p.Glu249= | |
| NM_001394648.1:c.717A>G | NP_001381577.1:p.Glu239= | |
| NM_001394649.1:c.468A>G | NP_001381578.1:p.Glu156= |