Linked Data
ClinVar Variation Id:
16778
dbSNP Id:
rs121913028
ExAC:
19:45918128 G / C
gnomAD v2:
19-45918128-G-C
gnomAD v3:
19-45414870-G-C
gnomAD v4:
19-45414870-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45414870G>C , CM000681.2:g.45414870G>C | GRCh38 |
| NC_000019.9:g.45918128G>C , CM000681.1:g.45918128G>C | GRCh37 |
| NC_000019.8:g.50609968G>C | NCBI36 |
| NG_015839.2:g.68959C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710953.1:c.*104C>G | ENSP00000518553.1:n.*104C>G | |
| ENST00000300853.8:c.693C>G MANE Select | ENSP00000300853.3:p.Phe231Leu | |
| ENST00000013807.9:c.693C>G | ENSP00000013807.4:p.Phe231Leu | |
| ENST00000300853.7:c.693C>G | ENSP00000300853.2:p.Phe231Leu | |
| ENST00000340192.11:c.693C>G | ENSP00000345203.6:p.Phe231Leu | |
| ENST00000423698.6:c.477C>G | ENSP00000394875.2:p.Phe159Leu | |
| ENST00000587888.5:c.406C>G | ENSP00000465225.1:n.406C>G | |
| ENST00000589165.5:c.693C>G | ENSP00000468035.1:p.Phe231Leu | |
| ENST00000589381.5:c.477C>G | ENSP00000468548.1:p.Phe159Leu | |
| ENST00000590701.5:c.167-1125C>G | ||
| ENST00000591636.5:c.602+1951C>G | ENSP00000468119.1:n.602+1951C>G | |
| ENST00000592023.5:c.693C>G | ENSP00000468158.1:p.Phe231Leu | |
| ENST00000592083.5:c.693C>G | ENSP00000467183.1:p.Phe231Leu | |
| ENST00000592444.5:c.130C>G | ||
| ENST00000592905.5:n.750C>G | ||
| NM_001166049.1:c.693C>G | NP_001159521.1:p.Phe231Leu | |
| NM_001983.3:c.693C>G | NP_001974.1:p.Phe231Leu | |
| NM_202001.2:c.693C>G | NP_973730.1:p.Phe231Leu | |
| XM_005258634.1:c.693C>G | XP_005258691.1:p.Phe231Leu | |
| XM_005258635.2:c.693C>G | XP_005258692.1:p.Phe231Leu | |
| XM_005258636.3:c.693C>G | XP_005258693.1:p.Phe231Leu | |
| XM_005258637.1:c.693C>G | XP_005258694.1:p.Phe231Leu | |
| XM_011526610.1:c.693C>G | XP_011524912.1:p.Phe231Leu | |
| XM_005258636.4:c.693C>G | XP_005258693.1:p.Phe231Leu | |
| XM_011526610.2:c.693C>G | XP_011524912.1:p.Phe231Leu | |
| XM_017026459.1:c.693C>G | XP_016881948.1:p.Phe231Leu | |
| XM_017026460.2:c.693C>G | XP_016881949.1:p.Phe231Leu | |
| XM_017026461.1:c.693C>G | XP_016881950.1:p.Phe231Leu | |
| XM_017026462.1:c.693C>G | XP_016881951.1:p.Phe231Leu | |
| XM_017026463.1:c.693C>G | XP_016881952.1:p.Phe231Leu | |
| XM_017026464.1:c.693C>G | XP_016881953.1:p.Phe231Leu | |
| XM_017026465.1:c.693C>G | XP_016881954.1:p.Phe231Leu | |
| XM_017026466.1:c.693C>G | XP_016881955.1:p.Phe231Leu | |
| XR_001753631.1:n.770C>G | ||
| XR_001753632.1:n.1240C>G | ||
| NM_001166049.2:c.693C>G | NP_001159521.1:p.Phe231Leu | |
| NM_001369408.1:c.693C>G | NP_001356337.1:p.Phe231Leu | |
| NM_001369409.1:c.693C>G | NP_001356338.1:p.Phe231Leu | |
| NM_001369410.1:c.693C>G | NP_001356339.1:p.Phe231Leu | |
| NM_001369411.1:c.693C>G | NP_001356340.1:p.Phe231Leu | |
| NM_001369412.1:c.693C>G | NP_001356341.1:p.Phe231Leu | |
| NM_001369413.1:c.693C>G | NP_001356342.1:p.Phe231Leu | |
| NM_001369414.1:c.693C>G | NP_001356343.1:p.Phe231Leu | |
| NM_001369415.1:c.693C>G | NP_001356344.1:p.Phe231Leu | |
| NM_001369416.1:c.693C>G | NP_001356345.1:p.Phe231Leu | |
| NM_001369417.1:c.693C>G | NP_001356346.1:p.Phe231Leu | |
| NM_001369418.1:c.693C>G | NP_001356347.1:p.Phe231Leu | |
| NM_001369419.1:c.693C>G | NP_001356348.1:p.Phe231Leu | |
| NM_001983.4:c.693C>G MANE Select | NP_001974.1:p.Phe231Leu | |
| NM_202001.3:c.693C>G | NP_973730.1:p.Phe231Leu |