Linked Data
dbSNP Id:
rs752682155
ExAC:
1:114445300 T / G
gnomAD v2:
1-114445300-T-G
gnomAD v3:
1-113902678-T-G
gnomAD v4:
1-113902678-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113902678T>G , CM000663.2:g.113902678T>G | GRCh38 |
| NC_000001.10:g.114445300T>G , CM000663.1:g.114445300T>G | GRCh37 |
| NC_000001.9:g.114246823T>G | NCBI36 |
| NG_031901.1:g.7442A>C | |
| NG_057565.1:g.3060T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.114-793A>C | ENSP00000358577.2:n.114-793A>C | |
| ENST00000369567.6:c.113+1927A>C | ENSP00000358580.1:n.113+1927A>C | |
| ENST00000369571.3:c.298A>C | ENSP00000358584.3:p.Met100Leu | |
| ENST00000432415.6:c.113+1927A>C | ENSP00000393622.2:n.113+1927A>C | |
| ENST00000460653.2:c.298A>C | ENSP00000518881.1:p.Met100Leu | |
| ENST00000484201.6:c.114-793A>C | ENSP00000518883.1:n.114-793A>C | |
| ENST00000489092.6:c.170A>C | ENSP00000518884.1:p.Asn57Thr | |
| ENST00000489499.6:c.298A>C | ENSP00000518882.1:p.Met100Leu | |
| ENST00000713588.1:c.298A>C | ENSP00000518880.1:p.Met100Leu | |
| ENST00000713590.1:c.298A>C | ENSP00000518886.1:p.Met100Leu | |
| ENST00000369569.6:c.298A>C MANE Select | ENSP00000358582.1:p.Met100Leu | |
| ENST00000256658.8:c.298A>C | ENSP00000256658.4:p.Met100Leu | |
| ENST00000369564.5:c.114-793A>C | ENSP00000358577.1:n.114-793A>C | |
| ENST00000369567.5:c.113+1927A>C | ENSP00000358580.1:n.113+1927A>C | |
| ENST00000369569.5:c.298A>C | ENSP00000358582.1:p.Met100Leu | |
| ENST00000369571.2:c.298A>C | ENSP00000358584.2:p.Met100Leu | |
| ENST00000432415.5:c.113+1927A>C | ENSP00000393622.1:n.113+1927A>C | |
| ENST00000484201.5:n.305-793A>C | ||
| ENST00000489092.5:n.297A>C | ||
| ENST00000489499.5:n.414A>C | ||
| NM_001253852.1:c.298A>C | NP_001240781.1:p.Met100Leu | |
| NM_001253852.2:c.298A>C | NP_001240781.1:p.Met100Leu | |
| NM_001253853.1:c.1A>C | NP_001240782.1:p.Met1Leu | |
| NM_001253853.2:c.1A>C | NP_001240782.1:p.Met1Leu | |
| NM_001308312.1:c.113+1927A>C | NP_001295241.1:n.113+1927A>C | |
| NM_006594.3:c.298A>C | NP_006585.2:p.Met100Leu | |
| NM_006594.4:c.298A>C | NP_006585.2:p.Met100Leu | |
| XM_005270381.2:c.298A>C | XP_005270438.1:p.Met100Leu | |
| XM_005270382.3:c.298A>C | XP_005270439.1:p.Met100Leu | |
| XM_011540523.1:c.114-793A>C | XP_011538825.1:n.114-793A>C | |
| XM_011540524.1:c.114-793A>C | XP_011538826.1:n.114-793A>C | |
| XM_011540525.1:c.298A>C | XP_011538827.1:p.Met100Leu | |
| XM_011540527.1:c.-173A>C | XP_011538829.1:n.-173A>C | |
| XR_246227.1:n.480A>C | ||
| XR_246228.2:n.480A>C | ||
| XM_011540523.3:c.114-793A>C | XP_011538825.1:n.114-793A>C | |
| XM_011540525.3:c.298A>C | XP_011538827.1:p.Met100Leu | |
| XM_017000089.2:c.298A>C | XP_016855578.1:p.Met100Leu | |
| XM_017000090.1:c.113+1927A>C | XP_016855579.1:n.113+1927A>C | |
| XM_017000091.2:c.298A>C | XP_016855580.1:p.Met100Leu | |
| XM_017000092.2:c.-947A>C | XP_016855581.1:n.-947A>C | |
| XM_017000093.2:c.298A>C | XP_016855582.1:p.Met100Leu | |
| XM_024452422.1:c.298A>C | XP_024308190.1:p.Met100Leu | |
| XM_024452423.1:c.298A>C | XP_024308191.1:p.Met100Leu | |
| XM_024452435.1:c.114-793A>C | XP_024308203.1:n.114-793A>C | |
| XM_024452441.1:c.113+1927A>C | XP_024308209.1:n.113+1927A>C | |
| XR_001736928.2:n.500A>C | ||
| XR_001736930.2:n.500A>C | ||
| XR_002958805.1:n.500A>C | ||
| XR_002958806.1:n.500A>C | ||
| XR_002958807.1:n.380A>C | ||
| NM_001253852.3:c.298A>C MANE Select | NP_001240781.1:p.Met100Leu | |
| NM_001253853.3:c.1A>C | NP_001240782.1:p.Met1Leu | |
| NM_001308312.2:c.113+1927A>C | NP_001295241.1:n.113+1927A>C | |
| NM_006594.5:c.298A>C | NP_006585.2:p.Met100Leu |