Linked Data
gnomAD v4:
17-41624479-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624479A>G , CM000679.2:g.41624479A>G | GRCh38 |
| NC_000017.10:g.39780731A>G , CM000679.1:g.39780731A>G | GRCh37 |
| NC_000017.9:g.37034257A>G | NCBI36 |
| NG_008625.1:g.5152T>C | |
| NG_009090.2:g.167234T>C , LRG_401:g.167234T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.31T>C MANE Select | ENSP00000308452.8:p.Ser11Pro | |
| ENST00000311208.12:c.31T>C | ENSP00000308452.8:p.Ser11Pro | |
| ENST00000463128.5:c.-313+264T>C | ENSP00000468672.1:n.-313+264T>C | |
| ENST00000491673.1:n.97T>C | ||
| ENST00000540235.5:c.-175T>C | ENSP00000441751.2:n.-175T>C | |
| NM_000422.2:c.31T>C | NP_000413.1:p.Ser11Pro | |
| NM_000422.3:c.31T>C MANE Select | NP_000413.1:p.Ser11Pro |