Linked Data
ClinVar Variation Id:
421457
dbSNP Id:
rs758700066
ExAC:
12:123741340 T / TAAAA
gnomAD v2:
12-123741340-T-TAAAA
gnomAD v3:
12-123256793-T-TAAAA
gnomAD v4:
12-123256793-T-TAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123256794_123256797dup , CM000674.2:g.123256794_123256797dup | GRCh38 |
| NC_000012.11:g.123741341_123741344dup , CM000674.1:g.123741341_123741344dup | GRCh37 |
| NC_000012.10:g.122307294_122307297dup | NCBI36 |
| NG_027517.1:g.28498_28501dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253233.6:c.283-19_283-16dup (MTRFR) MANE Select | ENSP00000253233.1:n.283-19_283-16dup | |
| ENST00000366329.7:c.283-19_283-16dup (MTRFR) | ENSP00000390647.1:n.283-19_283-16dup | |
| ENST00000425637.3:c.*1000-19_*1000-16dup (MTRFR) | ENSP00000506680.1:n.*1000-19_*1000-16dup | |
| ENST00000536130.2:c.283-19_283-16dup (MTRFR) | ENSP00000443072.2:n.283-19_283-16dup | |
| ENST00000538888.6:c.*166-19_*166-16dup (MTRFR) | ENSP00000505059.1:n.*166-19_*166-16dup | |
| ENST00000541002.7:n.809+2246_809+2249dup | ||
| ENST00000543139.2:c.283-19_283-16dup (MTRFR) | ENSP00000444843.2:n.283-19_283-16dup | |
| ENST00000543217.6:n.280+2246_280+2249dup | ||
| ENST00000652466.1:c.*955+3477_*955+3480dup (CDK2AP1) | ENSP00000498286.1:n.*955+3477_*955+3480dup | |
| ENST00000679849.1:c.283-19_283-16dup (MTRFR) | ENSP00000505808.1:n.283-19_283-16dup | |
| ENST00000680325.1:c.*671-19_*671-16dup (MTRFR) | ENSP00000505277.1:n.*671-19_*671-16dup | |
| ENST00000253233.5:c.283-19_283-16dup (MTRFR) | ENSP00000253233.1:n.283-19_283-16dup | |
| ENST00000366329.6:c.283-19_283-16dup (MTRFR) | ENSP00000390647.1:n.283-19_283-16dup | |
| ENST00000425637.2:n.1483-19_1483-16dup (MTRFR) | ||
| ENST00000429587.2:c.283-19_283-16dup (MTRFR) | ENSP00000391513.2:n.283-19_283-16dup | |
| ENST00000538888.5:n.649-19_649-16dup (MTRFR) | ||
| ENST00000543139.1:c.283-19_283-16dup (MTRFR) | ENSP00000444843.1:n.283-19_283-16dup | |
| NM_001143905.2:c.283-19_283-16dup (MTRFR) | NP_001137377.1:n.283-19_283-16dup | |
| NM_001194995.1:c.283-19_283-16dup (MTRFR) | NP_001181924.1:n.283-19_283-16dup | |
| NM_152269.4:c.283-19_283-16dup (MTRFR) | NP_689482.1:n.283-19_283-16dup | |
| XM_005253630.3:c.283-19_283-16dup (MTRFR) | XP_005253687.1:n.283-19_283-16dup | |
| XM_011538980.1:c.283-19_283-16dup (MTRFR) | XP_011537282.1:n.283-19_283-16dup | |
| XM_011538981.1:c.283-19_283-16dup (MTRFR) | XP_011537283.1:n.283-19_283-16dup | |
| XM_011538982.1:c.283-19_283-16dup (MTRFR) | XP_011537284.1:n.283-19_283-16dup | |
| XR_945472.1:n.186+2246_186+2249dup | ||
| XM_005253630.4:c.283-19_283-16dup (MTRFR) | XP_005253687.1:n.283-19_283-16dup | |
| XM_011538980.3:c.283-19_283-16dup (MTRFR) | XP_011537282.1:n.283-19_283-16dup | |
| XM_024449273.1:c.283-19_283-16dup (MTRFR) | XP_024305041.1:n.283-19_283-16dup | |
| NM_152269.5:c.283-19_283-16dup (MTRFR) MANE Select | NP_689482.1:n.283-19_283-16dup |