Linked Data
dbSNP Id:
rs1059394
gnomAD v2:
18-672792-C-T
gnomAD v3:
18-672792-C-T
gnomAD v4:
18-672792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.672792C>T , CM000680.2:g.672792C>T | GRCh38 |
| NC_000018.9:g.672792C>T , CM000680.1:g.672792C>T | GRCh37 |
| NC_000018.8:g.662792C>T | NCBI36 |
| NG_028255.1:g.20189C>T , LRG_783:g.20189C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323274.15:c.805-68C>T (TYMS) MANE Select | ENSP00000315644.10:n.805-68C>T | |
| ENST00000647584.2:c.*1513G>A (ENOSF1) MANE Select | ENSP00000497230.2:n.*1513G>A | |
| ENST00000323224.7:c.703-68C>T (TYMS) | ENSP00000314727.7:n.703-68C>T | |
| ENST00000323250.9:c.556-68C>T (TYMS) | ENSP00000314902.5:n.556-68C>T | |
| ENST00000323274.14:c.805-68C>T (TYMS) | ENSP00000315644.10:n.805-68C>T | |
| ENST00000383578.7:c.*429G>A (ENOSF1) | ENSP00000373072.3:n.*429G>A | |
| ENST00000581920.1:n.383-68C>T (TYMS) | ||
| ENST00000584259.6:n.3872G>A (ENOSF1) | ||
| NM_001071.2:c.805-68C>T , LRG_783t1:c.805-68C>T (TYMS) | NP_001062.1:n.805-68C>T | |
| NM_001126123.3:c.*429G>A (ENOSF1) | NP_001119595.1:n.*429G>A | |
| NM_017512.5:c.*1513G>A (ENOSF1) | NP_059982.2:n.*1513G>A | |
| NM_202758.3:c.*1513G>A (ENOSF1) | NP_974487.1:n.*1513G>A | |
| XR_243810.3:n.1797G>A (ENOSF1) | ||
| XR_243811.2:n.1822G>A (ENOSF1) | ||
| XR_430041.2:n.1917G>A (ENOSF1) | ||
| NM_001071.3:c.805-68C>T (TYMS) | NP_001062.1:n.805-68C>T | |
| NM_001354867.1:c.703-68C>T (TYMS) | NP_001341796.1:n.703-68C>T | |
| NM_001354868.1:c.556-68C>T (TYMS) | NP_001341797.1:n.556-68C>T | |
| NR_148706.1:n.1722G>A (ENOSF1) | ||
| NR_148707.1:n.1838G>A (ENOSF1) | ||
| NR_148708.1:n.2086G>A (ENOSF1) | ||
| NR_148709.1:n.1772G>A (ENOSF1) | ||
| NR_148710.1:n.1798G>A (ENOSF1) | ||
| NR_148711.1:n.1649G>A (ENOSF1) | ||
| NR_148712.1:n.1982G>A (ENOSF1) | ||
| XM_024451242.1:c.424-68C>T (TYMS) | XP_024307010.1:n.424-68C>T | |
| XR_002958180.1:n.1550G>A (ENOSF1) | ||
| XR_430041.4:n.1936G>A (ENOSF1) | ||
| NM_001071.4:c.805-68C>T (TYMS) MANE Select | NP_001062.1:n.805-68C>T | |
| NM_017512.7:c.*1513G>A (ENOSF1) MANE Select | NP_059982.2:n.*1513G>A | |
| NM_001318760.2:c.*1513G>A (ENOSF1) | NP_001305689.1:n.*1513G>A | |
| NM_001354065.2:c.*1513G>A (ENOSF1) | NP_001340994.1:n.*1513G>A | |
| NM_001354066.2:c.*1513G>A (ENOSF1) | NP_001340995.1:n.*1513G>A | |
| NM_001354067.2:c.*1513G>A (ENOSF1) | NP_001340996.1:n.*1513G>A | |
| NM_001354068.2:c.*1513G>A (ENOSF1) | NP_001340997.1:n.*1513G>A | |
| NM_001354867.2:c.703-68C>T (TYMS) | NP_001341796.1:n.703-68C>T | |
| NM_001354868.2:c.556-68C>T (TYMS) | NP_001341797.1:n.556-68C>T | |
| NM_202758.5:c.*1513G>A (ENOSF1) | NP_974487.2:n.*1513G>A | |
| NR_148706.2:n.1688G>A (ENOSF1) | ||
| NR_148707.2:n.1804G>A (ENOSF1) | ||
| NR_148708.2:n.2052G>A (ENOSF1) | ||
| NR_148709.2:n.1738G>A (ENOSF1) | ||
| NR_148710.2:n.1764G>A (ENOSF1) | ||
| NR_148711.2:n.1615G>A (ENOSF1) | ||
| NR_148712.2:n.1948G>A (ENOSF1) |