Linked Data
dbSNP Id:
rs2149354021
gnomAD v4:
1-237784195-G-A
MyVariant Identifiers:
chr1:g.237947495G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784195G>A , CM000663.2:g.237784195G>A | GRCh38 |
| NC_000001.10:g.237947495G>A , CM000663.1:g.237947495G>A | GRCh37 |
| NC_000001.9:g.236014118G>A | NCBI36 |
| NG_008799.2:g.746794G>A | |
| NG_008799.3:g.747012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3575G>A | ENSP00000499659.2:n.*3575G>A | |
| ENST00000659194.3:c.12471G>A | ENSP00000499653.3:p.Glu4157= | |
| ENST00000660292.2:c.12504G>A | ENSP00000499787.2:p.Glu4168= | |
| ENST00000659194.2:c.4660G>A | ||
| ENST00000366574.7:c.12483G>A MANE Select | ENSP00000355533.2:p.Glu4161= | |
| ENST00000659194.1:c.4660G>A | ||
| ENST00000660292.1:c.2536G>A | ||
| ENST00000360064.7:c.12435G>A | ENSP00000353174.7:p.Glu4145= | |
| ENST00000366574.6:c.12483G>A | ENSP00000355533.2:p.Glu4161= | |
| ENST00000609119.1:n.3678G>A | ||
| NM_001035.2:c.12483G>A | NP_001026.2:p.Glu4161= | |
| XM_006711802.2:c.12537G>A | XP_006711865.1:p.Glu4179= | |
| XM_006711803.2:c.12534G>A | XP_006711866.1:p.Glu4178= | |
| XM_006711804.2:c.12513G>A | XP_006711867.1:p.Glu4171= | |
| XM_006711805.2:c.12507G>A | XP_006711868.1:p.Glu4169= | |
| XM_006711806.2:c.12501G>A | XP_006711869.1:p.Glu4167= | |
| XM_006711807.2:c.12477G>A | XP_006711870.1:p.Glu4159= | |
| XM_006711808.2:c.12300G>A | XP_006711871.1:p.Glu4100= | |
| XM_006711810.2:c.12444G>A | XP_006711873.1:p.Glu4148= | |
| XM_006711802.3:c.12537G>A | XP_006711865.1:p.Glu4179= | |
| XM_006711803.3:c.12534G>A | XP_006711866.1:p.Glu4178= | |
| XM_006711804.3:c.12513G>A | XP_006711867.1:p.Glu4171= | |
| XM_006711805.3:c.12507G>A | XP_006711868.1:p.Glu4169= | |
| XM_006711806.3:c.12501G>A | XP_006711869.1:p.Glu4167= | |
| XM_006711807.3:c.12477G>A | XP_006711870.1:p.Glu4159= | |
| XM_006711808.3:c.12300G>A | XP_006711871.1:p.Glu4100= | |
| XM_006711810.3:c.12444G>A | XP_006711873.1:p.Glu4148= | |
| XM_017002028.1:c.12516G>A | XP_016857517.1:p.Glu4172= | |
| NM_001035.3:c.12483G>A MANE Select | NP_001026.2:p.Glu4161= |