Linked Data
dbSNP Id:
rs1233869144
gnomAD v2:
1-11847943-T-C
gnomAD v3:
1-11787886-T-C
gnomAD v4:
1-11787886-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11787886T>C , CM000663.2:g.11787886T>C | GRCh38 |
| NC_000001.10:g.11847943T>C , CM000663.1:g.11847943T>C | GRCh37 |
| NC_000001.9:g.11770530T>C | NCBI36 |
| NG_013351.1:g.23218A>G , LRG_726:g.23218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433342.6:c.3201T>C (C1orf167) | ENSP00000414909.3:p.His1067= | |
| ENST00000688073.1:c.3687T>C (C1orf167) MANE Select | ENSP00000510540.1:p.His1229= | |
| ENST00000376585.6:c.*2794A>G (MTHFR) | ENSP00000365770.1:n.*2794A>G | |
| ENST00000376590.9:c.*2794A>G (MTHFR) MANE Select | ENSP00000365775.3:n.*2794A>G | |
| ENST00000376592.6:c.*2794A>G (MTHFR) | ENSP00000365777.1:n.*2794A>G | |
| ENST00000312793.9:c.1837T>C (C1orf167) | ||
| ENST00000376583.7:c.4888A>G (MTHFR) | ENSP00000365767.3:n.4888A>G | |
| ENST00000376590.7:c.*2794A>G (MTHFR) | ENSP00000365775.3:n.*2794A>G | |
| ENST00000376592.5:c.*2794A>G (MTHFR) | ENSP00000365777.1:n.*2794A>G | |
| ENST00000433342.5:c.3759T>C (C1orf167) | ENSP00000414909.2:p.His1253= | |
| ENST00000444493.5:c.1186T>C (C1orf167) | ||
| ENST00000449278.1:c.1016T>C (C1orf167) | ||
| ENST00000475041.1:n.618T>C (C1orf167) | ||
| ENST00000482358.1:n.75T>C (C1orf167) | ||
| NM_001010881.1:c.3687T>C (C1orf167) | NP_001010881.1:p.His1229= | |
| NM_005957.4:c.*2794A>G , LRG_726t1:c.*2794A>G (MTHFR) | NP_005948.3:n.*2794A>G | |
| XM_006711078.2:c.3687T>C (C1orf167) | XP_006711141.1:p.His1229= | |
| XM_011541267.1:c.3822T>C (C1orf167) | XP_011539569.1:p.His1274= | |
| XM_011541268.1:c.3822T>C (C1orf167) | XP_011539570.1:p.His1274= | |
| XM_011541269.1:c.3822T>C (C1orf167) | XP_011539571.1:p.His1274= | |
| XM_011541270.1:c.3822T>C (C1orf167) | XP_011539572.1:p.His1274= | |
| XM_011541271.1:c.3768T>C (C1orf167) | XP_011539573.1:p.His1256= | |
| XM_011541272.1:c.3822T>C (C1orf167) | XP_011539574.1:p.His1274= | |
| XM_011541273.1:c.3687T>C (C1orf167) | XP_011539575.1:p.His1229= | |
| XM_011541274.1:c.3687T>C (C1orf167) | XP_011539576.1:p.His1229= | |
| XM_011541275.1:c.3687T>C (C1orf167) | XP_011539577.1:p.His1229= | |
| XM_011541276.1:c.3822T>C (C1orf167) | XP_011539578.1:p.His1274= | |
| XM_011541277.1:c.3822T>C (C1orf167) | XP_011539579.1:p.His1274= | |
| XM_011541278.1:c.3822T>C (C1orf167) | XP_011539580.1:p.His1274= | |
| XM_011541279.1:c.3414T>C (C1orf167) | XP_011539581.1:p.His1138= | |
| XM_011541280.1:c.2103T>C (C1orf167) | XP_011539582.1:p.His701= | |
| XM_011541281.1:c.2103T>C (C1orf167) | XP_011539583.1:p.His701= | |
| NM_001330358.1:c.*2794A>G (MTHFR) | NP_001317287.1:n.*2794A>G | |
| XM_011541272.3:c.3822T>C (C1orf167) | XP_011539574.1:p.His1274= | |
| XM_011541276.3:c.3822T>C (C1orf167) | XP_011539578.1:p.His1274= | |
| XM_011541277.3:c.3822T>C (C1orf167) | XP_011539579.1:p.His1274= | |
| XM_011541278.2:c.3822T>C (C1orf167) | XP_011539580.1:p.His1274= | |
| XM_024446506.1:c.3822T>C (C1orf167) | XP_024302274.1:p.His1274= | |
| XM_024446507.1:c.3822T>C (C1orf167) | XP_024302275.1:p.His1274= | |
| XM_024446508.1:c.3822T>C (C1orf167) | XP_024302276.1:p.His1274= | |
| XM_024446509.1:c.3822T>C (C1orf167) | XP_024302277.1:p.His1274= | |
| XM_024446512.1:c.3768T>C (C1orf167) | XP_024302280.1:p.His1256= | |
| XM_024446514.1:c.3687T>C (C1orf167) | XP_024302282.1:p.His1229= | |
| XM_024446515.1:c.3687T>C (C1orf167) | XP_024302283.1:p.His1229= | |
| XM_024446517.1:c.3687T>C (C1orf167) | XP_024302285.1:p.His1229= | |
| XM_024446518.1:c.2103T>C (C1orf167) | XP_024302286.1:p.His701= | |
| NM_001010881.2:c.3687T>C (C1orf167) MANE Select | NP_001010881.1:p.His1229= | |
| NM_005957.5:c.*2794A>G (MTHFR) MANE Select | NP_005948.3:n.*2794A>G | |
| NM_001330358.2:c.*2794A>G (MTHFR) | NP_001317287.1:n.*2794A>G |