Linked Data
ClinVar Variation Id:
7527
ClinVar RCV Id:
RCV000007962
dbSNP Id:
rs387906383
gnomAD v4:
17-14069607-T-C
PubMed:
PMID:15455402
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14069607T>C , CM000679.2:g.14069607T>C | GRCh38 |
| NC_000017.10:g.13972924T>C , CM000679.1:g.13972924T>C | GRCh37 |
| NC_000017.9:g.13913649T>C | NCBI36 |
| NG_008034.1:g.5206T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261643.8:c.2T>C MANE Select | ENSP00000261643.3:p.Met1Thr | |
| ENST00000664217.1:c.2T>C | ENSP00000499396.1:p.Met1Thr | |
| ENST00000670279.1:c.2T>C | ENSP00000499450.1:p.Met1Thr | |
| ENST00000261643.7:c.2T>C | ENSP00000261643.3:p.Met1Thr | |
| ENST00000429152.6:c.2T>C | ENSP00000397750.2:p.Met1Thr | |
| ENST00000580561.1:c.2T>C | ENSP00000462190.1:p.Met1Thr | |
| ENST00000581931.5:c.2T>C | ENSP00000462512.1:p.Met1Thr | |
| NM_001303.3:c.2T>C | NP_001294.2:p.Met1Thr | |
| XM_005256458.1:c.2T>C | XP_005256515.1:p.Met1Thr | |
| XM_011523657.1:c.2T>C | XP_011521959.1:p.Met1Thr | |
| XM_011523658.1:c.-450T>C | XP_011521960.1:n.-450T>C | |
| XR_933974.1:n.105T>C | ||
| XR_933975.1:n.105T>C | ||
| NM_001303.4:c.2T>C MANE Select | NP_001294.2:p.Met1Thr |