Linked Data
dbSNP Id:
rs756174459
ExAC:
17:38062193 C / T
gnomAD v2:
17-38062193-C-T
gnomAD v4:
17-39905940-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39905940C>T , CM000679.2:g.39905940C>T | GRCh38 |
| NC_000017.10:g.38062193C>T , CM000679.1:g.38062193C>T | GRCh37 |
| NC_000017.9:g.35315719C>T | NCBI36 |
| NG_015804.1:g.17711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418519.6:c.934G>A MANE Select | ENSP00000415049.1:p.Asp312Asn | |
| ENST00000309481.11:c.895G>A | ENSP00000312584.7:p.Asp299Asn | |
| ENST00000360317.7:c.934G>A | ENSP00000353465.3:p.Asp312Asn | |
| ENST00000394175.6:c.868G>A | ENSP00000377729.2:p.Asp290Asn | |
| ENST00000394179.5:c.895G>A | ENSP00000377733.2:p.Asp299Asn | |
| ENST00000418519.5:c.934G>A | ENSP00000415049.1:p.Asp312Asn | |
| ENST00000477054.6:n.4122G>A | ||
| ENST00000479136.5:n.1675G>A | ||
| ENST00000520542.5:c.907G>A | ENSP00000430157.1:p.Asp303Asn | |
| ENST00000522564.5:c.641G>A | ENSP00000428217.1:n.641G>A | |
| ENST00000523371.5:c.810G>A | ENSP00000429265.1:n.810G>A | |
| ENST00000524039.5:c.783G>A | ENSP00000428712.1:n.783G>A | |
| NM_001042471.1:c.895G>A | NP_001035936.1:p.Asp299Asn | |
| NM_001165958.1:c.934G>A | NP_001159430.1:p.Asp312Asn | |
| NM_001165959.1:c.907G>A | NP_001159431.1:p.Asp303Asn | |
| NM_018530.2:c.868G>A | NP_061000.2:p.Asp290Asn | |
| XM_011525001.1:c.946G>A | XP_011523303.1:p.Asp316Asn | |
| XM_011525002.1:c.946G>A | XP_011523304.1:p.Asp316Asn | |
| XM_011525003.1:c.946G>A | XP_011523305.1:p.Asp316Asn | |
| XM_011525004.1:c.946G>A | XP_011523306.1:p.Asp316Asn | |
| XM_011525005.1:c.946G>A | XP_011523307.1:p.Asp316Asn | |
| XM_011525006.1:c.946G>A | XP_011523308.1:p.Asp316Asn | |
| XM_011525007.1:c.946G>A | XP_011523309.1:p.Asp316Asn | |
| XM_011525008.1:c.946G>A | XP_011523310.1:p.Asp316Asn | |
| XM_011525009.1:c.946G>A | XP_011523311.1:p.Asp316Asn | |
| XM_011525010.1:c.946G>A | XP_011523312.1:p.Asp316Asn | |
| XM_011525011.1:c.946G>A | XP_011523313.1:p.Asp316Asn | |
| XM_011525012.1:c.946G>A | XP_011523314.1:p.Asp316Asn | |
| XM_011525013.1:c.946G>A | XP_011523315.1:p.Asp316Asn | |
| XM_011525014.1:c.946G>A | XP_011523316.1:p.Asp316Asn | |
| XM_011525015.1:c.946G>A | XP_011523317.1:p.Asp316Asn | |
| XM_011525016.1:c.934G>A | XP_011523318.1:p.Asp312Asn | |
| XM_011525017.1:c.919G>A | XP_011523319.1:p.Asp307Asn | |
| XM_011525018.1:c.907G>A | XP_011523320.1:p.Asp303Asn | |
| XM_011525019.1:c.895G>A | XP_011523321.1:p.Asp299Asn | |
| XM_011525020.1:c.868G>A | XP_011523322.1:p.Asp290Asn | |
| XR_934504.1:n.2507G>A | ||
| NM_001369402.1:c.895G>A | NP_001356331.1:p.Asp299Asn | |
| NM_001042471.2:c.895G>A | NP_001035936.1:p.Asp299Asn | |
| NM_001165958.2:c.934G>A MANE Select | NP_001159430.1:p.Asp312Asn | |
| NM_001165959.2:c.907G>A | NP_001159431.1:p.Asp303Asn | |
| NM_001369402.2:c.895G>A | NP_001356331.1:p.Asp299Asn | |
| NM_001388420.1:c.934G>A | NP_001375349.1:p.Asp312Asn | |
| NM_001388421.1:c.907G>A | NP_001375350.1:p.Asp303Asn | |
| NM_001388422.1:c.895G>A | NP_001375351.1:p.Asp299Asn | |
| NM_001388423.1:c.868G>A | NP_001375352.1:p.Asp290Asn | |
| NM_001388424.1:c.622G>A | NP_001375353.1:p.Asp208Asn | |
| NM_018530.3:c.868G>A | NP_061000.2:p.Asp290Asn | |
| NR_170970.1:n.1028G>A | ||
| NR_170971.1:n.2129G>A | ||
| NR_170972.1:n.2045G>A | ||
| NR_170973.1:n.2240G>A | ||
| NR_170974.1:n.2102G>A |