Linked Data
ClinVar Variation Id:
13624
ClinVar RCV Id:
RCV000014594
dbSNP Id:
rs104894036
gnomAD v4:
7-56019720-A-G
COSMIC:
COSM747392
PubMed:
PMID:14673469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.56019720A>G , CM000669.2:g.56019720A>G | GRCh38 |
| NC_000007.13:g.56087413A>G , CM000669.1:g.56087413A>G | GRCh37 |
| NC_000007.12:g.56054907A>G | NCBI36 |
| NG_011473.1:g.36856T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000275605.8:c.155T>C MANE Select | ENSP00000275605.3:p.Met52Thr | |
| ENST00000275605.7:c.155T>C | ENSP00000275605.3:p.Met52Thr | |
| ENST00000395471.7:c.155T>C | ENSP00000378854.3:p.Met52Thr | |
| ENST00000421626.5:c.155T>C | ENSP00000398653.1:p.Met52Thr | |
| ENST00000427797.5:c.229T>C | ENSP00000403431.1:p.Trp77Arg | |
| ENST00000437355.6:c.155T>C | ENSP00000401639.2:p.Met52Thr | |
| ENST00000459834.5:n.212-4549T>C | ||
| NM_004577.3:c.155T>C | NP_004568.2:p.Met52Thr | |
| XM_005271773.1:c.155T>C | XP_005271830.1:p.Met52Thr | |
| XM_005271774.1:c.155T>C | XP_005271831.1:p.Met52Thr | |
| XM_005271775.1:c.155T>C | XP_005271832.1:p.Met52Thr | |
| XM_005271776.1:c.155T>C | XP_005271833.1:p.Met52Thr | |
| XM_006715760.1:c.155T>C | XP_006715823.1:p.Met52Thr | |
| XM_006715761.1:c.140+1353T>C | XP_006715824.1:n.140+1353T>C | |
| XM_011515459.1:c.155T>C | XP_011513761.1:p.Met52Thr | |
| XM_011515460.1:c.155T>C | XP_011513762.1:p.Met52Thr | |
| XM_011515461.1:c.155T>C | XP_011513763.1:p.Met52Thr | |
| XM_011515462.1:c.155T>C | XP_011513764.1:p.Met52Thr | |
| XM_005271773.2:c.155T>C | XP_005271830.1:p.Met52Thr | |
| XM_005271774.2:c.155T>C | XP_005271831.1:p.Met52Thr | |
| XM_005271775.2:c.155T>C | XP_005271832.1:p.Met52Thr | |
| XM_005271776.2:c.155T>C | XP_005271833.1:p.Met52Thr | |
| XM_006715760.2:c.155T>C | XP_006715823.1:p.Met52Thr | |
| XM_006715761.2:c.140+1353T>C | XP_006715824.1:n.140+1353T>C | |
| XM_011515461.2:c.155T>C | XP_011513763.1:p.Met52Thr | |
| XM_017012466.2:c.155T>C | XP_016867955.1:p.Met52Thr | |
| XM_017012467.2:c.155T>C | XP_016867956.1:p.Met52Thr | |
| XM_017012468.2:c.140+1353T>C | XP_016867957.1:n.140+1353T>C | |
| XM_017012469.2:c.140+1353T>C | XP_016867958.1:n.140+1353T>C | |
| XR_002956470.1:n.952T>C | ||
| NM_004577.4:c.155T>C MANE Select | NP_004568.2:p.Met52Thr | |
| NM_001370503.1:c.155T>C | NP_001357432.1:p.Met52Thr | |
| NM_001370504.1:c.155T>C | NP_001357433.1:p.Met52Thr | |
| NM_001370505.1:c.155T>C | NP_001357434.1:p.Met52Thr | |
| NM_001370506.1:c.155T>C | NP_001357435.1:p.Met52Thr | |
| NM_001370507.1:c.155T>C | NP_001357436.1:p.Met52Thr | |
| NM_001370508.1:c.155T>C | NP_001357437.1:p.Met52Thr | |
| NM_001370509.1:c.155T>C | NP_001357438.1:p.Met52Thr | |
| NM_001370510.1:c.155T>C | NP_001357439.1:p.Met52Thr | |
| NM_001370511.1:c.155T>C | NP_001357440.1:p.Met52Thr | |
| NM_001370512.1:c.155T>C | NP_001357441.1:p.Met52Thr | |
| NM_001370513.1:c.155T>C | NP_001357442.1:p.Met52Thr | |
| NM_001370514.1:c.155T>C | NP_001357443.1:p.Met52Thr | |
| NM_001370515.1:c.155T>C | NP_001357444.1:p.Met52Thr | |
| NM_001370516.1:c.155T>C | NP_001357445.1:p.Met52Thr | |
| NM_001370517.1:c.155T>C | NP_001357446.1:p.Met52Thr | |
| NM_001370518.1:c.155T>C | NP_001357447.1:p.Met52Thr | |
| NM_001370519.1:c.155T>C | NP_001357448.1:p.Met52Thr | |
| NM_001370520.1:c.155T>C | NP_001357449.1:p.Met52Thr | |
| NM_001370521.1:c.155T>C | NP_001357450.1:p.Met52Thr | |
| NM_001370522.1:c.155T>C | NP_001357451.1:p.Met52Thr |