Linked Data
dbSNP Id:
rs754495724
ExAC:
1:213056761 T / C
gnomAD v2:
1-213056761-T-C
gnomAD v4:
1-212883419-T-C
COSMIC:
COSM1162863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883419T>C , CM000663.2:g.212883419T>C | GRCh38 |
| NC_000001.10:g.213056761T>C , CM000663.1:g.213056761T>C | GRCh37 |
| NC_000001.9:g.211123384T>C | NCBI36 |
| NG_028131.1:g.30165T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1073T>C MANE Select | ENSP00000355938.4:p.Met358Thr | |
| ENST00000366971.8:c.1073T>C | ENSP00000355938.4:p.Met358Thr | |
| ENST00000419102.1:c.469T>C | ||
| ENST00000474693.1:n.298T>C | ||
| ENST00000483790.1:n.11T>C | ||
| NM_014053.3:c.1073T>C | NP_054772.1:p.Met358Thr | |
| XM_011509446.1:c.1073T>C | XP_011507748.1:p.Met358Thr | |
| XR_247024.1:n.1247T>C | ||
| XR_426771.1:n.1374T>C | ||
| XM_011509446.3:c.1073T>C | XP_011507748.1:p.Met358Thr | |
| XR_247024.3:n.1247T>C | ||
| NM_014053.4:c.1073T>C MANE Select | NP_054772.1:p.Met358Thr |