Linked Data
gnomAD v4:
17-41624239-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624239G>C , CM000679.2:g.41624239G>C | GRCh38 |
| NC_000017.10:g.39780491G>C , CM000679.1:g.39780491G>C | GRCh37 |
| NC_000017.9:g.37034017G>C | NCBI36 |
| NG_008625.1:g.5392C>G | |
| NG_009090.2:g.167474C>G , LRG_401:g.167474C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.271C>G MANE Select | ENSP00000308452.8:p.Leu91Val | |
| ENST00000311208.12:c.271C>G | ENSP00000308452.8:p.Leu91Val | |
| ENST00000463128.5:c.-312-33C>G | ENSP00000468672.1:n.-312-33C>G | |
| ENST00000491673.1:n.337C>G | ||
| ENST00000493253.5:n.58C>G | ||
| ENST00000540235.5:c.66C>G | ENSP00000441751.2:p.Thr22= | |
| ENST00000577817.3:c.226C>G | ENSP00000467418.1:p.Leu76Val | |
| NM_000422.2:c.271C>G | NP_000413.1:p.Leu91Val | |
| NM_000422.3:c.271C>G MANE Select | NP_000413.1:p.Leu91Val |