Linked Data
dbSNP Id:
rs752460902
ExAC:
17:37374165 A / G
gnomAD v2:
17-37374165-A-G
gnomAD v3:
17-39217912-A-G
gnomAD v4:
17-39217912-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39217912A>G , CM000679.2:g.39217912A>G | GRCh38 |
| NC_000017.10:g.37374165A>G , CM000679.1:g.37374165A>G | GRCh37 |
| NC_000017.9:g.34627691A>G | NCBI36 |
| NG_054936.1:g.12876T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333461.6:c.352T>C MANE Select | ENSP00000327509.5:p.Phe118Leu | |
| ENST00000333461.5:c.352T>C | ENSP00000327509.5:p.Phe118Leu | |
| ENST00000584501.1:c.195+157T>C | ENSP00000463299.1:n.195+157T>C | |
| NM_198993.3:c.352T>C | NP_945344.1:p.Phe118Leu | |
| NM_001351360.1:c.-30+157T>C | NP_001338289.1:n.-30+157T>C | |
| NM_198993.4:c.352T>C | NP_945344.1:p.Phe118Leu | |
| XM_017024580.1:c.352T>C | XP_016880069.1:p.Phe118Leu | |
| XM_017024581.1:c.352T>C | XP_016880070.1:p.Phe118Leu | |
| XM_017024583.1:c.352T>C | XP_016880072.1:p.Phe118Leu | |
| XR_002957997.1:n.637T>C | ||
| NM_198993.5:c.352T>C MANE Select | NP_945344.1:p.Phe118Leu | |
| NM_001351360.2:c.-30+157T>C | NP_001338289.1:n.-30+157T>C |