Linked Data
dbSNP Id:
rs1044573
gnomAD v2:
20-25206654-A-G
gnomAD v3:
20-25226018-A-G
gnomAD v4:
20-25226018-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25226018A>G , CM000682.2:g.25226018A>G | GRCh38 |
| NC_000020.10:g.25206654A>G , CM000682.1:g.25206654A>G | GRCh37 |
| NC_000020.9:g.25154654A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376652.9:c.*421A>G MANE Select | ENSP00000365840.4:n.*421A>G | |
| ENST00000354989.9:c.*421A>G | ENSP00000347084.5:n.*421A>G | |
| ENST00000360031.6:c.*421A>G | ENSP00000353131.2:n.*421A>G | |
| ENST00000376652.8:c.*421A>G | ENSP00000365840.4:n.*421A>G | |
| ENST00000376666.3:c.1389A>G | ||
| ENST00000433259.6:c.*503A>G | ENSP00000401895.2:n.*503A>G | |
| ENST00000485936.5:n.1877A>G | ||
| ENST00000490187.1:n.1207A>G | ||
| NM_001114089.1:c.*421A>G | NP_001107561.1:n.*421A>G | |
| NM_001247.2:c.*421A>G | NP_001238.2:n.*421A>G | |
| XM_005260878.2:c.*421A>G | XP_005260935.1:n.*421A>G | |
| XM_005260881.2:c.*503A>G | XP_005260938.1:n.*503A>G | |
| XM_005260882.2:c.*421A>G | XP_005260939.1:n.*421A>G | |
| XM_005260883.2:c.*503A>G | XP_005260940.1:n.*503A>G | |
| XM_005260884.2:c.*421A>G | XP_005260941.1:n.*421A>G | |
| XM_005260885.2:c.*503A>G | XP_005260942.1:n.*503A>G | |
| XM_005260886.2:c.*421A>G | XP_005260943.1:n.*421A>G | |
| XM_005260887.2:c.*421A>G | XP_005260944.1:n.*421A>G | |
| XM_006723665.2:c.*421A>G | XP_006723728.1:n.*421A>G | |
| XM_011529396.1:c.*421A>G | XP_011527698.1:n.*421A>G | |
| XM_011529397.1:c.*421A>G | XP_011527699.1:n.*421A>G | |
| XM_011529398.1:c.*421A>G | XP_011527700.1:n.*421A>G | |
| XM_011529399.1:c.*421A>G | XP_011527701.1:n.*421A>G | |
| XM_011529400.1:c.*421A>G | XP_011527702.1:n.*421A>G | |
| NM_001114089.3:c.*421A>G | NP_001107561.1:n.*421A>G | |
| NM_001247.4:c.*421A>G | NP_001238.2:n.*421A>G | |
| NM_001317941.2:c.*421A>G | NP_001304870.1:n.*421A>G | |
| NM_001322378.1:c.*421A>G | NP_001309307.1:n.*421A>G | |
| NM_001322379.1:c.*421A>G | NP_001309308.1:n.*421A>G | |
| NM_001322380.1:c.*503A>G | NP_001309309.1:n.*503A>G | |
| NM_001322381.1:c.*503A>G | NP_001309310.1:n.*503A>G | |
| NM_001322382.1:c.*421A>G | NP_001309311.1:n.*421A>G | |
| NM_001322383.1:c.*421A>G | NP_001309312.1:n.*421A>G | |
| NM_001322384.1:c.*421A>G | NP_001309313.1:n.*421A>G | |
| NM_001322385.1:c.*421A>G | NP_001309314.1:n.*421A>G | |
| NM_001322386.1:c.*421A>G | NP_001309315.1:n.*421A>G | |
| NM_001322387.1:c.*421A>G | NP_001309316.1:n.*421A>G | |
| NM_001322388.1:c.*503A>G | NP_001309317.1:n.*503A>G | |
| NM_001322389.1:c.*421A>G | NP_001309318.1:n.*421A>G | |
| NM_001322390.1:c.*421A>G | NP_001309319.1:n.*421A>G | |
| NM_001322391.1:c.*421A>G | NP_001309320.1:n.*421A>G | |
| NM_001322392.1:c.*503A>G | NP_001309321.1:n.*503A>G | |
| NM_001322393.1:c.*503A>G | NP_001309322.1:n.*503A>G | |
| NM_001322394.1:c.*421A>G | NP_001309323.1:n.*421A>G | |
| NM_001322395.1:c.*503A>G | NP_001309324.1:n.*503A>G | |
| NM_001322396.1:c.*503A>G | NP_001309325.1:n.*503A>G | |
| NM_001322397.1:c.*503A>G | NP_001309326.1:n.*503A>G | |
| NM_001322398.1:c.*421A>G | NP_001309327.1:n.*421A>G | |
| XM_017028129.1:c.*503A>G | XP_016883618.1:n.*503A>G | |
| XM_017028130.1:c.*421A>G | XP_016883619.1:n.*421A>G | |
| XM_017028132.2:c.*421A>G | XP_016883621.1:n.*421A>G | |
| XM_017028133.2:c.*503A>G | XP_016883622.1:n.*503A>G | |
| XM_017028134.1:c.*503A>G | XP_016883623.1:n.*503A>G | |
| XM_024452020.1:c.*421A>G | XP_024307788.1:n.*421A>G | |
| XM_024452021.1:c.*421A>G | XP_024307789.1:n.*421A>G | |
| XR_001754438.2:n.1900A>G | ||
| NM_001247.5:c.*421A>G MANE Select | NP_001238.3:n.*421A>G | |
| NM_001114089.4:c.*421A>G | NP_001107561.2:n.*421A>G | |
| NM_001317941.3:c.*421A>G | NP_001304870.2:n.*421A>G | |
| NM_001322378.2:c.*421A>G | NP_001309307.2:n.*421A>G | |
| NM_001322379.2:c.*421A>G | NP_001309308.1:n.*421A>G | |
| NM_001322380.2:c.*503A>G | NP_001309309.1:n.*503A>G | |
| NM_001322381.2:c.*503A>G | NP_001309310.1:n.*503A>G | |
| NM_001322382.2:c.*421A>G | NP_001309311.1:n.*421A>G | |
| NM_001322383.2:c.*421A>G | NP_001309312.1:n.*421A>G | |
| NM_001322384.2:c.*421A>G | NP_001309313.1:n.*421A>G | |
| NM_001322385.2:c.*421A>G | NP_001309314.2:n.*421A>G | |
| NM_001322386.2:c.*421A>G | NP_001309315.2:n.*421A>G | |
| NM_001322387.2:c.*421A>G | NP_001309316.2:n.*421A>G | |
| NM_001322388.2:c.*503A>G | NP_001309317.2:n.*503A>G | |
| NM_001322389.2:c.*421A>G | NP_001309318.2:n.*421A>G | |
| NM_001322390.2:c.*421A>G | NP_001309319.2:n.*421A>G | |
| NM_001322391.2:c.*421A>G | NP_001309320.2:n.*421A>G | |
| NM_001322392.2:c.*503A>G | NP_001309321.2:n.*503A>G | |
| NM_001322393.2:c.*503A>G | NP_001309322.2:n.*503A>G | |
| NM_001322394.2:c.*421A>G | NP_001309323.2:n.*421A>G | |
| NM_001322395.2:c.*503A>G | NP_001309324.2:n.*503A>G | |
| NM_001322396.2:c.*503A>G | NP_001309325.2:n.*503A>G | |
| NM_001322397.2:c.*503A>G | NP_001309326.2:n.*503A>G | |
| NM_001322398.2:c.*421A>G | NP_001309327.2:n.*421A>G |