Linked Data
dbSNP Id:
rs573162716
ExAC:
4:23815892 T / C
gnomAD v2:
4-23815892-T-C
gnomAD v3:
4-23814269-T-C
gnomAD v4:
4-23814269-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23814269T>C , CM000666.2:g.23814269T>C | GRCh38 |
| NC_000004.11:g.23815892T>C , CM000666.1:g.23815892T>C | GRCh37 |
| NC_000004.10:g.23424990T>C | NCBI36 |
| NG_028250.1:g.80809A>G | |
| NG_028250.2:g.663707A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.1214A>G MANE Select | ENSP00000264867.2:p.Gln405Arg | |
| ENST00000264867.6:c.1214A>G | ENSP00000264867.2:p.Gln405Arg | |
| ENST00000506055.5:c.*429A>G | ENSP00000423075.1:n.*429A>G | |
| ENST00000509702.5:n.1254A>G | ||
| ENST00000613098.4:c.833A>G | ENSP00000481498.1:p.Gln278Arg | |
| NM_013261.3:c.1214A>G | NP_037393.1:p.Gln405Arg | |
| XM_005248130.2:c.1229A>G | XP_005248187.1:p.Gln410Arg | |
| XM_005248131.3:c.1226A>G | XP_005248188.1:p.Gln409Arg | |
| XM_005248132.1:c.1205A>G | XP_005248189.1:p.Gln402Arg | |
| XM_005248134.3:c.1229A>G | XP_005248191.1:p.Gln410Arg | |
| XM_011513764.1:c.1214A>G | XP_011512066.1:p.Gln405Arg | |
| XM_011513765.1:c.1178A>G | XP_011512067.1:p.Gln393Arg | |
| XM_011513766.1:c.1109A>G | XP_011512068.1:p.Gln370Arg | |
| XM_011513767.1:c.1109A>G | XP_011512069.1:p.Gln370Arg | |
| XM_011513768.1:c.1109A>G | XP_011512070.1:p.Gln370Arg | |
| XM_011513769.1:c.1229A>G | XP_011512071.1:p.Gln410Arg | |
| XM_011513770.1:c.833A>G | XP_011512072.1:p.Gln278Arg | |
| XM_011513771.1:c.833A>G | XP_011512073.1:p.Gln278Arg | |
| NM_001330751.1:c.1229A>G | NP_001317680.1:p.Gln410Arg | |
| NM_001330752.1:c.1178A>G | NP_001317681.1:p.Gln393Arg | |
| NM_001330753.1:c.833A>G | NP_001317682.1:p.Gln278Arg | |
| NM_001354825.1:c.1229A>G | NP_001341754.1:p.Gln410Arg | |
| NM_001354826.1:c.833A>G | NP_001341755.1:p.Gln278Arg | |
| NM_001354827.1:c.1229A>G | NP_001341756.1:p.Gln410Arg | |
| NM_013261.4:c.1214A>G | NP_037393.1:p.Gln405Arg | |
| NR_148981.1:n.1741A>G | ||
| NR_148982.1:n.1814A>G | ||
| NR_148983.1:n.1967A>G | ||
| NR_148984.1:n.1365A>G | ||
| NR_148985.1:n.1879A>G | ||
| NR_148986.1:n.1884A>G | ||
| NR_148987.1:n.1966A>G | ||
| XM_005248131.5:c.1226A>G | XP_005248188.1:p.Gln409Arg | |
| XM_005248134.4:c.1229A>G | XP_005248191.1:p.Gln410Arg | |
| XM_011513769.2:c.1229A>G | XP_011512071.1:p.Gln410Arg | |
| XM_024453878.1:c.1229A>G | XP_024309646.1:p.Gln410Arg | |
| NM_013261.5:c.1214A>G MANE Select | NP_037393.1:p.Gln405Arg | |
| NM_001330751.2:c.1229A>G | NP_001317680.1:p.Gln410Arg | |
| NM_001330752.2:c.1178A>G | NP_001317681.1:p.Gln393Arg | |
| NM_001354825.2:c.1229A>G | NP_001341754.1:p.Gln410Arg | |
| NM_001354826.2:c.833A>G | NP_001341755.1:p.Gln278Arg | |
| NM_001354827.2:c.1229A>G | NP_001341756.1:p.Gln410Arg | |
| NR_148981.2:n.1817A>G | ||
| NR_148982.2:n.1890A>G | ||
| NR_148983.2:n.2043A>G | ||
| NR_148984.2:n.1335A>G | ||
| NR_148985.2:n.1955A>G | ||
| NR_148986.2:n.1960A>G | ||
| NR_148987.2:n.2042A>G | ||
| NM_001330753.2:c.833A>G | NP_001317682.1:p.Gln278Arg |