Linked Data
ClinVar Variation Id:
1002121
ClinVar RCV Id:
RCV001298499
dbSNP Id:
rs781018527
ExAC:
2:113890363 T / C
gnomAD v2:
2-113890363-T-C
gnomAD v4:
2-113132786-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113132786T>C , CM000664.2:g.113132786T>C | GRCh38 |
| NC_000002.11:g.113890363T>C , CM000664.1:g.113890363T>C | GRCh37 |
| NC_000002.10:g.113606834T>C | NCBI36 |
| NG_021240.1:g.19894T>C , LRG_188:g.19894T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.347T>C | ENSP00000387210.1:p.Met116Thr | |
| ENST00000696879.1:c.347T>C | ENSP00000512947.1:p.Met116Thr | |
| ENST00000696880.1:c.347T>C | ENSP00000512948.1:p.Met116Thr | |
| ENST00000696881.1:c.347T>C | ENSP00000512949.1:p.Met116Thr | |
| ENST00000696882.1:c.*219T>C | ENSP00000512950.1:n.*219T>C | |
| ENST00000696883.1:n.394T>C | ||
| ENST00000409930.4:c.449T>C MANE Select | ENSP00000387173.3:p.Met150Thr | |
| ENST00000259206.9:c.458T>C | ENSP00000259206.5:p.Met153Thr | |
| ENST00000354115.6:c.395T>C | ENSP00000329072.3:p.Met132Thr | |
| ENST00000361779.7:c.347T>C | ENSP00000354816.3:p.Met116Thr | |
| ENST00000409052.5:c.347T>C | ENSP00000387210.1:p.Met116Thr | |
| ENST00000409930.3:c.449T>C | ENSP00000387173.3:p.Met150Thr | |
| NM_000577.4:c.395T>C | NP_000568.1:p.Met132Thr | |
| NM_173841.2:c.458T>C , LRG_188t1:c.458T>C | NP_776213.1:p.Met153Thr | |
| NM_173842.2:c.449T>C | NP_776214.1:p.Met150Thr | |
| NM_173843.2:c.347T>C | NP_776215.1:p.Met116Thr | |
| XM_005263661.3:c.347T>C | XP_005263718.1:p.Met116Thr | |
| XM_006712497.2:c.347T>C | XP_006712560.1:p.Met116Thr | |
| XM_011511121.1:c.347T>C | XP_011509423.1:p.Met116Thr | |
| NM_001318914.1:c.347T>C | NP_001305843.1:p.Met116Thr | |
| XM_005263661.4:c.347T>C | XP_005263718.1:p.Met116Thr | |
| NM_000577.5:c.395T>C | NP_000568.1:p.Met132Thr | |
| NM_001318914.2:c.347T>C | NP_001305843.1:p.Met116Thr | |
| NM_173842.3:c.449T>C MANE Select | NP_776214.1:p.Met150Thr | |
| NM_173843.3:c.347T>C | NP_776215.1:p.Met116Thr | |
| NM_001379360.1:c.347T>C | NP_001366289.1:p.Met116Thr | |
| NM_173841.3:c.458T>C | NP_776213.1:p.Met153Thr |