Linked Data
dbSNP Id:
rs11743803
gnomAD v2:
5-131312238-A-G
gnomAD v3:
5-131976545-A-G
gnomAD v4:
5-131976545-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131976545A>G , CM000667.2:g.131976545A>G | GRCh38 |
| NC_000005.9:g.131312238A>G , CM000667.1:g.131312238A>G | GRCh37 |
| NC_000005.8:g.131340137A>G | NCBI36 |
| NG_028290.1:g.40524T>C | |
| NG_028290.2:g.40524T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296869.9:c.954+103T>C | ENSP00000296869.5:n.954+103T>C | |
| ENST00000434099.6:c.885+103T>C | ENSP00000397507.2:n.885+103T>C | |
| ENST00000650697.1:c.984+103T>C | ENSP00000498444.1:n.984+103T>C | |
| ENST00000650912.1:c.810+103T>C | ENSP00000499071.1:n.810+103T>C | |
| ENST00000651086.1:c.*1720+103T>C | ENSP00000498727.1:n.*1720+103T>C | |
| ENST00000651127.1:n.551T>C | ||
| ENST00000651250.1:c.885+103T>C | ENSP00000498588.1:n.885+103T>C | |
| ENST00000651269.1:c.*1045+103T>C | ENSP00000498492.1:n.*1045+103T>C | |
| ENST00000651356.1:c.990+103T>C | ENSP00000498260.1:n.990+103T>C | |
| ENST00000651427.1:c.810+103T>C | ENSP00000498263.1:n.810+103T>C | |
| ENST00000651454.1:c.373+103T>C | ||
| ENST00000651597.1:n.915T>C | ||
| ENST00000651883.2:c.990+103T>C MANE Select | ENSP00000499063.2:n.990+103T>C | |
| ENST00000652375.1:n.1568+103T>C | ||
| ENST00000652424.1:c.990+103T>C | ENSP00000498305.1:n.990+103T>C | |
| ENST00000652469.1:c.990+103T>C | ENSP00000498837.1:n.990+103T>C | |
| ENST00000652493.1:c.990+103T>C | ENSP00000498458.1:n.990+103T>C | |
| ENST00000296869.8:c.990+103T>C | ENSP00000296869.4:n.990+103T>C | |
| ENST00000357096.5:c.810+103T>C | ENSP00000349608.1:n.810+103T>C | |
| ENST00000379240.5:c.915+103T>C | ENSP00000368542.1:n.915+103T>C | |
| ENST00000379244.5:c.915+103T>C | ENSP00000368546.1:n.915+103T>C | |
| ENST00000379246.5:c.948+103T>C | ENSP00000368548.1:n.948+103T>C | |
| ENST00000379255.5:c.810+103T>C | ENSP00000368557.1:n.810+103T>C | |
| ENST00000379264.6:c.990+103T>C | ENSP00000368566.2:n.990+103T>C | |
| ENST00000413683.5:c.915+103T>C | ENSP00000415140.1:n.915+103T>C | |
| ENST00000431707.5:c.855+103T>C | ENSP00000413329.1:n.855+103T>C | |
| ENST00000434099.5:c.810+103T>C | ENSP00000397507.1:n.810+103T>C | |
| ENST00000543479.5:c.960+103T>C | ENSP00000442124.2:n.960+103T>C | |
| NM_001009185.2:c.990+103T>C | NP_001009185.1:n.990+103T>C | |
| NM_001205247.1:c.885+103T>C | NP_001192176.1:n.885+103T>C | |
| NM_001205248.1:c.915+103T>C | NP_001192177.1:n.915+103T>C | |
| NM_001205250.1:c.948+103T>C | NP_001192179.1:n.948+103T>C | |
| NM_001205251.1:c.810+103T>C | NP_001192180.1:n.810+103T>C | |
| NM_015256.3:c.990+103T>C | NP_056071.2:n.990+103T>C | |
| NM_015256.4:c.990+103T>C | NP_056071.2:n.990+103T>C | |
| NM_001009185.3:c.990+103T>C MANE Select | NP_001009185.1:n.990+103T>C | |
| NM_001205247.2:c.885+103T>C | NP_001192176.1:n.885+103T>C | |
| NM_001205248.2:c.915+103T>C | NP_001192177.1:n.915+103T>C | |
| NM_001205251.2:c.810+103T>C | NP_001192180.1:n.810+103T>C |