Linked Data
dbSNP Id:
rs1240706895
gnomAD v4:
6-156829307-G-A
MyVariant Identifiers:
chr6:g.157150441G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.156829307G>A , CM000668.2:g.156829307G>A | GRCh38 |
| NC_000006.11:g.157150441G>A , CM000668.1:g.157150441G>A | GRCh37 |
| NC_000006.10:g.157192133G>A | NCBI36 |
| NG_032093.1:g.56378G>A | |
| NG_032093.2:g.56378G>A | |
| NG_066624.1:g.58282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.1872G>A | ENSP00000055163.8:p.Gln624= | |
| ENST00000414678.8:c.1872G>A | ENSP00000412835.3:p.Gln624= | |
| ENST00000637015.2:c.1872G>A | ENSP00000489729.2:p.Gln624= | |
| ENST00000346085.10:c.1872G>A | ENSP00000344546.5:p.Gln624= | |
| ENST00000350026.10:c.1623G>A | ENSP00000055163.7:p.Gln541= | |
| ENST00000414678.7:c.120G>A | ENSP00000412835.2:p.Gln40= | |
| ENST00000494260.2:c.153G>A | ENSP00000490094.1:p.Gln51= | |
| ENST00000636607.1:c.135G>A | ENSP00000490050.1:p.Gln45= | |
| ENST00000636748.1:c.153G>A | ENSP00000489917.1:p.Gln51= | |
| ENST00000636930.2:c.1872G>A MANE Select | ENSP00000490491.2:p.Gln624= | |
| ENST00000637910.1:n.153G>A | ||
| ENST00000638000.1:c.89G>A | ||
| ENST00000647938.1:c.1623G>A | ENSP00000498155.1:p.Gln541= | |
| ENST00000674190.1:n.579G>A | ||
| ENST00000674298.1:c.1612G>A | ||
| ENST00000346085.9:c.1623G>A | ENSP00000344546.4:p.Gln541= | |
| ENST00000350026.9:c.1623G>A | ENSP00000055163.7:p.Gln541= | |
| ENST00000414678.6:c.120G>A | ENSP00000412835.2:p.Gln40= | |
| ENST00000494260.1:n.81G>A | ||
| NM_017519.2:c.1623G>A | NP_059989.2:p.Gln541= | |
| NM_020732.3:c.1623G>A | NP_065783.3:p.Gln541= | |
| XM_005267069.3:c.1623G>A | XP_005267126.2:p.Gln541= | |
| XM_011535984.1:c.492G>A | XP_011534286.1:p.Gln164= | |
| XM_011535985.1:c.492G>A | XP_011534287.1:p.Gln164= | |
| XM_011535986.1:c.72G>A | XP_011534288.1:p.Gln24= | |
| NM_001346813.1:c.1623G>A | NP_001333742.1:p.Gln541= | |
| XM_011535984.2:c.1623G>A | XP_011534286.2:p.Gln541= | |
| XM_017011103.2:c.1623G>A | XP_016866592.1:p.Gln541= | |
| XM_017011104.1:c.1623G>A | XP_016866593.1:p.Gln541= | |
| XM_017011105.2:c.1623G>A | XP_016866594.1:p.Gln541= | |
| XM_017011106.2:c.1623G>A | XP_016866595.1:p.Gln541= | |
| XM_017011107.2:c.1623G>A | XP_016866596.1:p.Gln541= | |
| XR_002956289.1:n.1706G>A | ||
| NM_001371656.1:c.1872G>A | NP_001358585.1:p.Gln624= | |
| NM_001374820.1:c.1872G>A | NP_001361749.1:p.Gln624= | |
| NM_001374828.1:c.1872G>A MANE Select | NP_001361757.1:p.Gln624= | |
| NM_017519.3:c.1872G>A | NP_059989.3:p.Gln624= |