Linked Data
dbSNP Id:
rs4370013
gnomAD v2:
3-2654691-A-T
gnomAD v3:
3-2613007-A-T
gnomAD v4:
3-2613007-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.2613007A>T , CM000665.2:g.2613007A>T | GRCh38 |
| NC_000003.11:g.2654691A>T , CM000665.1:g.2654691A>T | GRCh37 |
| NC_000003.10:g.2629691A>T | NCBI36 |
| NG_012827.1:g.517445A>T | |
| NG_012827.2:g.517445A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000418658.6:c.55+41449A>T MANE Select | ENSP00000396010.1:n.55+41449A>T | |
| ENST00000397461.5:c.55+41449A>T | ENSP00000380602.1:n.55+41449A>T | |
| ENST00000418658.5:c.55+41449A>T | ENSP00000396010.1:n.55+41449A>T | |
| ENST00000422330.5:c.55+41449A>T | ENSP00000408594.1:n.55+41449A>T | |
| ENST00000427331.5:c.55+41449A>T | ENSP00000413642.1:n.55+41449A>T | |
| ENST00000427741.5:c.55+41449A>T | ENSP00000396719.1:n.55+41449A>T | |
| ENST00000430505.6:n.252+41449A>T | ||
| ENST00000434053.5:c.56-16519A>T | ENSP00000404085.1:n.56-16519A>T | |
| ENST00000438282.6:n.491+41449A>T | ||
| ENST00000455083.5:c.55+41449A>T | ENSP00000390560.1:n.55+41449A>T | |
| NM_001206955.1:c.55+41449A>T | NP_001193884.1:n.55+41449A>T | |
| NM_175607.2:c.55+41449A>T | NP_783200.1:n.55+41449A>T | |
| XM_006713004.2:c.55+41449A>T | XP_006713067.1:n.55+41449A>T | |
| XM_011533425.1:c.55+41449A>T | XP_011531727.1:n.55+41449A>T | |
| XM_011533426.1:c.55+41449A>T | XP_011531728.1:n.55+41449A>T | |
| XM_011533427.1:c.55+41449A>T | XP_011531729.1:n.55+41449A>T | |
| XM_011533428.1:c.55+41449A>T | XP_011531730.1:n.55+41449A>T | |
| XM_011533429.1:c.55+41449A>T | XP_011531731.1:n.55+41449A>T | |
| XM_011533430.1:c.55+41449A>T | XP_011531732.1:n.55+41449A>T | |
| NM_001350095.1:c.55+41449A>T | NP_001337024.1:n.55+41449A>T | |
| XM_006713004.4:c.55+41449A>T | XP_006713067.1:n.55+41449A>T | |
| XM_011533425.3:c.55+41449A>T | XP_011531727.1:n.55+41449A>T | |
| XM_011533427.2:c.55+41449A>T | XP_011531729.1:n.55+41449A>T | |
| XM_011533428.2:c.55+41449A>T | XP_011531730.1:n.55+41449A>T | |
| XM_011533429.2:c.55+41449A>T | XP_011531731.1:n.55+41449A>T | |
| XM_011533430.2:c.55+41449A>T | XP_011531732.1:n.55+41449A>T | |
| XM_017005782.1:c.55+41449A>T | XP_016861271.1:n.55+41449A>T | |
| XM_017005783.1:c.55+41449A>T | XP_016861272.1:n.55+41449A>T | |
| XM_017005784.2:c.55+41449A>T | XP_016861273.1:n.55+41449A>T | |
| XM_017005785.1:c.55+41449A>T | XP_016861274.1:n.55+41449A>T | |
| XM_017005786.1:c.55+41449A>T | XP_016861275.1:n.55+41449A>T | |
| XM_017005787.1:c.55+41449A>T | XP_016861276.1:n.55+41449A>T | |
| NM_175607.3:c.55+41449A>T MANE Select | NP_783200.1:n.55+41449A>T | |
| NM_001206955.2:c.55+41449A>T | NP_001193884.1:n.55+41449A>T | |
| NM_001350095.2:c.55+41449A>T | NP_001337024.1:n.55+41449A>T |