Linked Data
ClinVar Variation Id:
5154
dbSNP Id:
rs3807153
ExAC:
7:138417791 A / G
gnomAD v2:
7-138417791-A-G
gnomAD v3:
7-138733046-A-G
gnomAD v4:
7-138733046-A-G
PubMed:
PMID:10973252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138733046A>G , CM000669.2:g.138733046A>G | GRCh38 |
| NC_000007.13:g.138417791A>G , CM000669.1:g.138417791A>G | GRCh37 |
| NC_000007.12:g.138068331A>G | NCBI36 |
| NG_008145.1:g.70151T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310018.7:c.1739T>C MANE Select | ENSP00000308122.2:p.Met580Thr | |
| ENST00000478480.2:c.965T>C | ENSP00000495261.1:p.Met322Thr | |
| ENST00000644341.1:c.965T>C | ENSP00000495642.1:p.Met322Thr | |
| ENST00000645515.1:c.1739T>C | ENSP00000496421.1:p.Met580Thr | |
| ENST00000647427.1:c.632T>C | ENSP00000496259.1:p.Met211Thr | |
| ENST00000310018.6:c.1739T>C | ENSP00000308122.2:p.Met580Thr | |
| ENST00000353492.4:c.1739T>C | ENSP00000253856.6:p.Met580Thr | |
| ENST00000393054.5:c.1739T>C | ENSP00000376774.1:p.Met580Thr | |
| NM_020632.2:c.1739T>C | NP_065683.2:p.Met580Thr | |
| NM_130840.2:c.1739T>C | NP_570855.2:p.Met580Thr | |
| NM_130841.2:c.1739T>C | NP_570856.2:p.Met580Thr | |
| XM_005250393.1:c.1739T>C | XP_005250450.1:p.Met580Thr | |
| XM_005250394.2:c.1739T>C | XP_005250451.1:p.Met580Thr | |
| XM_005250394.3:c.1739T>C | XP_005250451.1:p.Met580Thr | |
| NM_020632.3:c.1739T>C MANE Select | NP_065683.2:p.Met580Thr | |
| NM_130840.3:c.1739T>C | NP_570855.2:p.Met580Thr | |
| NM_130841.3:c.1739T>C | NP_570856.2:p.Met580Thr |