Linked Data
dbSNP Id:
rs1404162617
gnomAD v2:
1-11849908-A-G
gnomAD v3:
1-11789851-A-G
gnomAD v4:
1-11789851-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11789851A>G , CM000663.2:g.11789851A>G | GRCh38 |
| NC_000001.10:g.11849908A>G , CM000663.1:g.11849908A>G | GRCh37 |
| NC_000001.9:g.11772495A>G | NCBI36 |
| NG_013351.1:g.21253T>C , LRG_726:g.21253T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.*829T>C (MTHFR) | ENSP00000365770.1:n.*829T>C | |
| ENST00000376590.9:c.*829T>C (MTHFR) MANE Select | ENSP00000365775.3:n.*829T>C | |
| ENST00000376592.6:c.*829T>C (MTHFR) | ENSP00000365777.1:n.*829T>C | |
| ENST00000641747.1:c.*2312T>C (MTHFR) | ENSP00000493116.1:n.*2312T>C | |
| ENST00000376583.7:c.2923T>C (MTHFR) | ENSP00000365767.3:n.2923T>C | |
| ENST00000376585.5:c.*829T>C (MTHFR) | ENSP00000365770.1:n.*829T>C | |
| ENST00000376590.7:c.*829T>C (MTHFR) | ENSP00000365775.3:n.*829T>C | |
| ENST00000376592.5:c.*829T>C (MTHFR) | ENSP00000365777.1:n.*829T>C | |
| NM_005957.4:c.*829T>C , LRG_726t1:c.*829T>C (MTHFR) | NP_005948.3:n.*829T>C | |
| NM_001330358.1:c.*829T>C (MTHFR) | NP_001317287.1:n.*829T>C | |
| XM_011541272.3:c.*405A>G (C1orf167) | XP_011539574.1:n.*405A>G | |
| XM_011541276.3:c.*392A>G (C1orf167) | XP_011539578.1:n.*392A>G | |
| XM_011541277.3:c.*405A>G (C1orf167) | XP_011539579.1:n.*405A>G | |
| XM_024446506.1:c.*808A>G (C1orf167) | XP_024302274.1:n.*808A>G | |
| XM_024446507.1:c.*808A>G (C1orf167) | XP_024302275.1:n.*808A>G | |
| XM_024446508.1:c.*808A>G (C1orf167) | XP_024302276.1:n.*808A>G | |
| XM_024446509.1:c.*808A>G (C1orf167) | XP_024302277.1:n.*808A>G | |
| XM_024446512.1:c.*808A>G (C1orf167) | XP_024302280.1:n.*808A>G | |
| XM_024446514.1:c.*808A>G (C1orf167) | XP_024302282.1:n.*808A>G | |
| XM_024446515.1:c.*808A>G (C1orf167) | XP_024302283.1:n.*808A>G | |
| XM_024446517.1:c.*808A>G (C1orf167) | XP_024302285.1:n.*808A>G | |
| XM_024446518.1:c.*808A>G (C1orf167) | XP_024302286.1:n.*808A>G | |
| NM_005957.5:c.*829T>C (MTHFR) MANE Select | NP_005948.3:n.*829T>C | |
| NM_001330358.2:c.*829T>C (MTHFR) | NP_001317287.1:n.*829T>C |