Linked Data
dbSNP Id:
rs1237512525
gnomAD v2:
13-101879515-T-G
gnomAD v3:
13-101227164-T-G
gnomAD v4:
13-101227164-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101227164T>G , CM000675.2:g.101227164T>G | GRCh38 |
| NC_000013.10:g.101879515T>G , CM000675.1:g.101879515T>G | GRCh37 |
| NC_000013.9:g.100677516T>G | NCBI36 |
| NG_053176.1:g.195043A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251127.11:c.1626+2229A>C MANE Select | ENSP00000251127.6:n.1626+2229A>C | |
| ENST00000648359.1:c.1626+2229A>C | ENSP00000497465.1:n.1626+2229A>C | |
| ENST00000674840.1:n.1724+2229A>C | ||
| ENST00000674904.1:n.1706+2229A>C | ||
| ENST00000675150.1:c.1626+2229A>C | ENSP00000502680.1:n.1626+2229A>C | |
| ENST00000675332.1:c.1626+2229A>C | ENSP00000501955.1:n.1626+2229A>C | |
| ENST00000675594.1:c.*1063+2229A>C | ENSP00000502490.1:n.*1063+2229A>C | |
| ENST00000675802.1:c.1626+2229A>C | ENSP00000501818.1:n.1626+2229A>C | |
| ENST00000676315.1:c.1539+2229A>C | ENSP00000501603.1:n.1539+2229A>C | |
| ENST00000676439.1:n.1800+2229A>C | ||
| ENST00000251127.10:c.1626+2229A>C | ENSP00000251127.6:n.1626+2229A>C | |
| ENST00000470333.1:n.1722+2229A>C | ||
| ENST00000497170.5:n.1780+2229A>C | ||
| NM_052867.2:c.1626+2229A>C | NP_443099.1:n.1626+2229A>C | |
| XM_011521067.1:c.1683+2229A>C | XP_011519369.1:n.1683+2229A>C | |
| XM_011521068.1:c.1626+2229A>C | XP_011519370.1:n.1626+2229A>C | |
| XM_011521069.1:c.1596+2229A>C | XP_011519371.1:n.1596+2229A>C | |
| XM_011521070.1:c.1683+2229A>C | XP_011519372.1:n.1683+2229A>C | |
| NM_001350748.1:c.1626+2229A>C | NP_001337677.1:n.1626+2229A>C | |
| NM_001350749.1:c.1626+2229A>C | NP_001337678.1:n.1626+2229A>C | |
| NM_001350750.1:c.1539+2229A>C | NP_001337679.1:n.1539+2229A>C | |
| NM_001350751.1:c.1539+2229A>C | NP_001337680.1:n.1539+2229A>C | |
| NM_052867.3:c.1626+2229A>C | NP_443099.1:n.1626+2229A>C | |
| XM_011521067.2:c.1683+2229A>C | XP_011519369.1:n.1683+2229A>C | |
| XM_011521069.2:c.1596+2229A>C | XP_011519371.1:n.1596+2229A>C | |
| XM_017020536.2:c.1179+2229A>C | XP_016876025.1:n.1179+2229A>C | |
| XM_017020537.1:c.861+2229A>C | XP_016876026.1:n.861+2229A>C | |
| XM_024449336.1:c.1683+2229A>C | XP_024305104.1:n.1683+2229A>C | |
| NM_052867.4:c.1626+2229A>C MANE Select | NP_443099.1:n.1626+2229A>C | |
| NM_001350748.2:c.1626+2229A>C | NP_001337677.1:n.1626+2229A>C | |
| NM_001350749.2:c.1626+2229A>C | NP_001337678.1:n.1626+2229A>C | |
| NM_001350750.2:c.1539+2229A>C | NP_001337679.1:n.1539+2229A>C | |
| NM_001350751.2:c.1539+2229A>C | NP_001337680.1:n.1539+2229A>C |