Linked Data
dbSNP Id:
rs1480443744
gnomAD v2:
3-60289978-C-G
gnomAD v3:
3-60304249-C-G
gnomAD v4:
3-60304249-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.60304249C>G , CM000665.2:g.60304249C>G | GRCh38 |
| NC_000003.11:g.60289978C>G , CM000665.1:g.60289978C>G | GRCh37 |
| NC_000003.10:g.60265018C>G | NCBI36 |
| NG_007551.1:g.952156G>C | |
| NG_007551.2:g.952211G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492590.6:c.103+232611G>C MANE Select | ENSP00000418582.1:n.103+232611G>C | |
| ENST00000468189.5:c.103+232611G>C | ENSP00000417480.1:n.103+232611G>C | |
| ENST00000476844.5:c.103+232611G>C | ENSP00000417557.1:n.103+232611G>C | |
| ENST00000488467.5:c.103+232611G>C | ENSP00000418596.1:n.103+232611G>C | |
| ENST00000492590.5:c.103+232611G>C | ENSP00000418582.1:n.103+232611G>C | |
| NM_001166243.1:c.103+232611G>C | NP_001159715.1:n.103+232611G>C | |
| NM_002012.2:c.103+232611G>C | NP_002003.1:n.103+232611G>C | |
| XM_011533481.1:c.103+232611G>C | XP_011531783.1:n.103+232611G>C | |
| XM_011533482.1:c.103+232611G>C | XP_011531784.1:n.103+232611G>C | |
| XM_011533483.1:c.103+232611G>C | XP_011531785.1:n.103+232611G>C | |
| XM_011533484.1:c.103+232611G>C | XP_011531786.1:n.103+232611G>C | |
| XM_011533485.1:c.103+232611G>C | XP_011531787.1:n.103+232611G>C | |
| XM_011533486.1:c.103+232611G>C | XP_011531788.1:n.103+232611G>C | |
| NM_001166243.2:c.103+232611G>C | NP_001159715.1:n.103+232611G>C | |
| NM_001320899.1:c.103+232611G>C | NP_001307828.1:n.103+232611G>C | |
| NM_001320900.1:c.103+232611G>C | NP_001307829.1:n.103+232611G>C | |
| NM_001354589.1:c.103+232611G>C | NP_001341518.1:n.103+232611G>C | |
| NM_001354590.1:c.103+232611G>C | NP_001341519.1:n.103+232611G>C | |
| NM_002012.3:c.103+232611G>C | NP_002003.1:n.103+232611G>C | |
| XM_017005880.2:c.103+232611G>C | XP_016861369.1:n.103+232611G>C | |
| XM_017005881.2:c.103+232611G>C | XP_016861370.1:n.103+232611G>C | |
| XM_017005882.2:c.103+232611G>C | XP_016861371.1:n.103+232611G>C | |
| XM_017005883.1:c.103+232611G>C | XP_016861372.1:n.103+232611G>C | |
| XM_017005884.1:c.103+232611G>C | XP_016861373.1:n.103+232611G>C | |
| NM_002012.4:c.103+232611G>C MANE Select | NP_002003.1:n.103+232611G>C | |
| NM_001166243.3:c.103+232611G>C | NP_001159715.1:n.103+232611G>C | |
| NM_001320899.2:c.103+232611G>C | NP_001307828.1:n.103+232611G>C | |
| NM_001320900.2:c.103+232611G>C | NP_001307829.1:n.103+232611G>C | |
| NM_001354589.2:c.103+232611G>C | NP_001341518.1:n.103+232611G>C | |
| NM_001354590.2:c.103+232611G>C | NP_001341519.1:n.103+232611G>C |