Linked Data
dbSNP Id:
rs202095800
gnomAD v2:
20-57599252-T-C
gnomAD v3:
20-59024197-T-C
gnomAD v4:
20-59024197-T-C
COSMIC:
COSM725017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024197T>C , CM000682.2:g.59024197T>C | GRCh38 |
| NC_000020.10:g.57599252T>C , CM000682.1:g.57599252T>C | GRCh37 |
| NC_000020.9:g.57032647T>C | NCBI36 |
| NG_023424.2:g.9944T>C , LRG_581:g.9944T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217133.2:c.770T>C MANE Select | ENSP00000217133.1:p.Met257Thr | |
| ENST00000217133.1:c.770T>C | ENSP00000217133.1:p.Met257Thr | |
| NM_030773.3:c.770T>C , LRG_581t1:c.770T>C | NP_110400.1:p.Met257Thr | |
| XM_017028085.1:c.704T>C | XP_016883574.1:p.Met235Thr | |
| NM_030773.4:c.770T>C MANE Select | NP_110400.1:p.Met257Thr |