Linked Data
ClinVar Variation Id:
1234187
ClinVar RCV Id:
RCV001620423
dbSNP Id:
rs2790
gnomAD v2:
18-673086-A-G
gnomAD v3:
18-673086-A-G
gnomAD v4:
18-673086-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.673086A>G , CM000680.2:g.673086A>G | GRCh38 |
| NC_000018.9:g.673086A>G , CM000680.1:g.673086A>G | GRCh37 |
| NC_000018.8:g.663086A>G | NCBI36 |
| NG_028255.1:g.20483A>G , LRG_783:g.20483A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323274.15:c.*89A>G (TYMS) MANE Select | ENSP00000315644.10:n.*89A>G | |
| ENST00000647584.2:c.*1219T>C (ENOSF1) MANE Select | ENSP00000497230.2:n.*1219T>C | |
| ENST00000323224.7:c.929A>G (TYMS) | ENSP00000314727.7:n.929A>G | |
| ENST00000323274.14:c.*89A>G (TYMS) | ENSP00000315644.10:n.*89A>G | |
| ENST00000383578.7:c.*145-10T>C (ENOSF1) | ENSP00000373072.3:n.*145-10T>C | |
| ENST00000581920.1:n.609A>G (TYMS) | ||
| ENST00000584259.6:n.3588-10T>C (ENOSF1) | ||
| NM_001071.2:c.*89A>G , LRG_783t1:c.*89A>G (TYMS) | NP_001062.1:n.*89A>G | |
| NM_001126123.3:c.*145-10T>C (ENOSF1) | NP_001119595.1:n.*145-10T>C | |
| NM_017512.5:c.*1219T>C (ENOSF1) | NP_059982.2:n.*1219T>C | |
| NM_202758.3:c.*1219T>C (ENOSF1) | NP_974487.1:n.*1219T>C | |
| XR_243810.3:n.1513-10T>C (ENOSF1) | ||
| XR_243811.2:n.1538-10T>C (ENOSF1) | ||
| XR_430041.2:n.1633-10T>C (ENOSF1) | ||
| NM_001071.3:c.*89A>G (TYMS) | NP_001062.1:n.*89A>G | |
| NM_001354867.1:c.*89A>G (TYMS) | NP_001341796.1:n.*89A>G | |
| NM_001354868.1:c.*89A>G (TYMS) | NP_001341797.1:n.*89A>G | |
| NR_148706.1:n.1438-10T>C (ENOSF1) | ||
| NR_148707.1:n.1554-10T>C (ENOSF1) | ||
| NR_148708.1:n.1802-10T>C (ENOSF1) | ||
| NR_148709.1:n.1488-10T>C (ENOSF1) | ||
| NR_148710.1:n.1514-10T>C (ENOSF1) | ||
| NR_148711.1:n.1365-10T>C (ENOSF1) | ||
| NR_148712.1:n.1698-10T>C (ENOSF1) | ||
| XM_024451242.1:c.*89A>G (TYMS) | XP_024307010.1:n.*89A>G | |
| XR_002958180.1:n.1266-10T>C (ENOSF1) | ||
| XR_430041.4:n.1652-10T>C (ENOSF1) | ||
| NM_001071.4:c.*89A>G (TYMS) MANE Select | NP_001062.1:n.*89A>G | |
| NM_017512.7:c.*1219T>C (ENOSF1) MANE Select | NP_059982.2:n.*1219T>C | |
| NM_001318760.2:c.*1219T>C (ENOSF1) | NP_001305689.1:n.*1219T>C | |
| NM_001354065.2:c.*1219T>C (ENOSF1) | NP_001340994.1:n.*1219T>C | |
| NM_001354066.2:c.*1219T>C (ENOSF1) | NP_001340995.1:n.*1219T>C | |
| NM_001354067.2:c.*1219T>C (ENOSF1) | NP_001340996.1:n.*1219T>C | |
| NM_001354068.2:c.*1219T>C (ENOSF1) | NP_001340997.1:n.*1219T>C | |
| NM_001354867.2:c.*89A>G (TYMS) | NP_001341796.1:n.*89A>G | |
| NM_001354868.2:c.*89A>G (TYMS) | NP_001341797.1:n.*89A>G | |
| NM_202758.5:c.*1219T>C (ENOSF1) | NP_974487.2:n.*1219T>C | |
| NR_148706.2:n.1404-10T>C (ENOSF1) | ||
| NR_148707.2:n.1520-10T>C (ENOSF1) | ||
| NR_148708.2:n.1768-10T>C (ENOSF1) | ||
| NR_148709.2:n.1454-10T>C (ENOSF1) | ||
| NR_148710.2:n.1480-10T>C (ENOSF1) | ||
| NR_148711.2:n.1331-10T>C (ENOSF1) | ||
| NR_148712.2:n.1664-10T>C (ENOSF1) |