Linked Data
dbSNP Id:
rs7632505
gnomAD v2:
3-122738307-A-G
gnomAD v3:
3-123019460-A-G
gnomAD v4:
3-123019460-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123019460A>G , CM000665.2:g.123019460A>G | GRCh38 |
| NC_000003.11:g.122738307A>G , CM000665.1:g.122738307A>G | GRCh37 |
| NC_000003.10:g.124220997A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357599.8:c.-39+8004T>C MANE Select | ENSP00000350215.3:n.-39+8004T>C | |
| ENST00000648990.1:c.-51+8004T>C | ENSP00000497595.1:n.-51+8004T>C | |
| ENST00000649167.1:n.248+8004T>C | ||
| ENST00000195173.8:c.-51+8004T>C | ENSP00000195173.5:n.-51+8004T>C | |
| ENST00000357599.7:c.-39+8004T>C | ENSP00000350215.3:n.-39+8004T>C | |
| ENST00000421053.5:c.-39+7638T>C | ENSP00000401056.1:n.-39+7638T>C | |
| ENST00000465147.1:n.303+8004T>C | ||
| ENST00000475244.5:c.-39+8987T>C | ENSP00000417570.1:n.-39+8987T>C | |
| ENST00000477001.1:n.115+8004T>C | ||
| NM_001031702.3:c.-39+8004T>C | NP_001026872.2:n.-39+8004T>C | |
| NM_001256348.1:c.-51+8004T>C | NP_001243277.1:n.-51+8004T>C | |
| NR_046079.1:n.159+8987T>C | ||
| XM_011512918.1:c.-51+8004T>C | XP_011511220.1:n.-51+8004T>C | |
| XR_924407.1:n.12-2552A>G | ||
| XM_017006639.1:c.-51+8004T>C | XP_016862128.1:n.-51+8004T>C | |
| NM_001031702.4:c.-39+8004T>C MANE Select | NP_001026872.2:n.-39+8004T>C | |
| NM_001256348.2:c.-51+8004T>C | NP_001243277.1:n.-51+8004T>C | |
| NR_046079.2:n.159+8987T>C |