Linked Data
ClinVar Variation Id:
257699
dbSNP Id:
rs1281378
ExAC:
1:179852074 T / C
gnomAD v2:
1-179852074-T-C
gnomAD v3:
1-179882939-T-C
gnomAD v4:
1-179882939-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179882939T>C , CM000663.2:g.179882939T>C | GRCh38 |
| NC_000001.10:g.179852074T>C , CM000663.1:g.179852074T>C | GRCh37 |
| NC_000001.9:g.178118697T>C | NCBI36 |
| NG_042316.1:g.5898T>C | |
| NG_053185.1:g.676A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606911.7:c.437T>C MANE Select | ENSP00000476687.1:p.Met146Thr | |
| ENST00000271583.7:c.437T>C | ENSP00000271583.3:p.Met146Thr | |
| ENST00000435319.8:c.74T>C | ENSP00000393292.3:p.Met25Thr | |
| ENST00000527391.5:c.51T>C | ||
| ENST00000528443.6:c.437T>C | ENSP00000435365.2:p.Met146Thr | |
| ENST00000531630.6:c.146T>C | ENSP00000434316.2:p.Met49Thr | |
| ENST00000606911.6:c.437T>C | ENSP00000476687.1:p.Met146Thr | |
| NM_001267578.1:c.437T>C | NP_001254507.1:p.Met146Thr | |
| NM_015602.3:c.437T>C | NP_056417.2:p.Met146Thr | |
| XM_011509403.1:c.437T>C | XP_011507705.1:p.Met146Thr | |
| XM_011509404.1:c.437T>C | XP_011507706.1:p.Met146Thr | |
| XM_011509403.2:c.437T>C | XP_011507705.1:p.Met146Thr | |
| XM_011509404.2:c.437T>C | XP_011507706.1:p.Met146Thr | |
| NM_001267578.2:c.437T>C | NP_001254507.1:p.Met146Thr | |
| NM_015602.4:c.437T>C MANE Select | NP_056417.2:p.Met146Thr |