Linked Data
dbSNP Id:
rs10176394
gnomAD v2:
2-144096374-T-C
gnomAD v3:
2-143338805-T-C
gnomAD v4:
2-143338805-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.143338805T>C , CM000664.2:g.143338805T>C | GRCh38 |
| NC_000002.11:g.144096374T>C , CM000664.1:g.144096374T>C | GRCh37 |
| NC_000002.10:g.143812844T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295095.11:c.474+88205T>C MANE Select | ENSP00000295095.6:n.474+88205T>C | |
| ENST00000295095.10:c.474+88205T>C | ENSP00000295095.6:n.474+88205T>C | |
| ENST00000460776.5:n.422+88205T>C | ||
| ENST00000469117.5:n.205+88205T>C | ||
| ENST00000474474.5:n.238+88205T>C | ||
| ENST00000552641.5:n.542+88205T>C | ||
| NM_018460.3:c.474+88205T>C | NP_060930.3:n.474+88205T>C | |
| XM_006712632.2:c.474+88205T>C | XP_006712695.1:n.474+88205T>C | |
| XM_011511479.1:c.474+88205T>C | XP_011509781.1:n.474+88205T>C | |
| XM_011511480.1:c.474+88205T>C | XP_011509782.1:n.474+88205T>C | |
| XM_011511481.1:c.474+88205T>C | XP_011509783.1:n.474+88205T>C | |
| XM_011511482.1:c.474+88205T>C | XP_011509784.1:n.474+88205T>C | |
| XM_011511483.1:c.240+88205T>C | XP_011509785.1:n.240+88205T>C | |
| XM_011511484.1:c.474+88205T>C | XP_011509786.1:n.474+88205T>C | |
| XM_011511479.2:c.474+88205T>C | XP_011509781.1:n.474+88205T>C | |
| XM_011511481.2:c.474+88205T>C | XP_011509783.1:n.474+88205T>C | |
| XM_011511482.2:c.474+88205T>C | XP_011509784.1:n.474+88205T>C | |
| XM_017004499.2:c.474+88205T>C | XP_016859988.1:n.474+88205T>C | |
| XM_017004500.2:c.345+88205T>C | XP_016859989.1:n.345+88205T>C | |
| XM_017004501.1:c.474+88205T>C | XP_016859990.1:n.474+88205T>C | |
| XR_001738850.1:n.560+88205T>C | ||
| NM_018460.4:c.474+88205T>C MANE Select | NP_060930.3:n.474+88205T>C |