Linked Data
dbSNP Id:
rs7992226
gnomAD v2:
13-101797840-A-G
gnomAD v3:
13-101145489-A-G
gnomAD v4:
13-101145489-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101145489A>G , CM000675.2:g.101145489A>G | GRCh38 |
| NC_000013.10:g.101797840A>G , CM000675.1:g.101797840A>G | GRCh37 |
| NC_000013.9:g.100595841A>G | NCBI36 |
| NG_053176.1:g.276718T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.1840-593T>C MANE Select | ENSP00000251127.6:n.1840-593T>C | |
| ENST00000467264.2:c.32-593T>C | ||
| ENST00000648359.1:c.1840-593T>C | ENSP00000497465.1:n.1840-593T>C | |
| ENST00000675150.1:c.1840-20808T>C | ENSP00000502680.1:n.1840-20808T>C | |
| ENST00000675332.1:c.1840-593T>C | ENSP00000501955.1:n.1840-593T>C | |
| ENST00000675802.1:c.1840-593T>C | ENSP00000501818.1:n.1840-593T>C | |
| ENST00000676315.1:c.1753-593T>C | ENSP00000501603.1:n.1753-593T>C | |
| ENST00000251127.10:c.1840-593T>C | ENSP00000251127.6:n.1840-593T>C | |
| ENST00000497170.5:n.1994-593T>C | ||
| NM_052867.2:c.1840-593T>C | NP_443099.1:n.1840-593T>C | |
| XM_011521067.1:c.1897-593T>C | XP_011519369.1:n.1897-593T>C | |
| XM_011521068.1:c.1840-593T>C | XP_011519370.1:n.1840-593T>C | |
| XM_011521069.1:c.1810-593T>C | XP_011519371.1:n.1810-593T>C | |
| XM_011521070.1:c.1897-20808T>C | XP_011519372.1:n.1897-20808T>C | |
| NM_001350748.1:c.1840-593T>C | NP_001337677.1:n.1840-593T>C | |
| NM_001350749.1:c.1840-593T>C | NP_001337678.1:n.1840-593T>C | |
| NM_001350750.1:c.1753-593T>C | NP_001337679.1:n.1753-593T>C | |
| NM_001350751.1:c.1753-593T>C | NP_001337680.1:n.1753-593T>C | |
| NM_052867.3:c.1840-593T>C | NP_443099.1:n.1840-593T>C | |
| XM_011521067.2:c.1897-593T>C | XP_011519369.1:n.1897-593T>C | |
| XM_011521069.2:c.1810-593T>C | XP_011519371.1:n.1810-593T>C | |
| XM_017020536.2:c.1393-593T>C | XP_016876025.1:n.1393-593T>C | |
| XM_017020537.1:c.1075-593T>C | XP_016876026.1:n.1075-593T>C | |
| XM_024449336.1:c.1897-593T>C | XP_024305104.1:n.1897-593T>C | |
| NM_052867.4:c.1840-593T>C MANE Select | NP_443099.1:n.1840-593T>C | |
| NM_001350748.2:c.1840-593T>C | NP_001337677.1:n.1840-593T>C | |
| NM_001350749.2:c.1840-593T>C | NP_001337678.1:n.1840-593T>C | |
| NM_001350750.2:c.1753-593T>C | NP_001337679.1:n.1753-593T>C | |
| NM_001350751.2:c.1753-593T>C | NP_001337680.1:n.1753-593T>C |