Linked Data
ClinVar Variation Id:
365657
ClinVar RCV Id:
RCV000340168
dbSNP Id:
rs200103371
ExAC:
9:136513037 T / C
gnomAD v2:
9-136513037-T-C
gnomAD v3:
9-133647915-T-C
gnomAD v4:
9-133647915-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133647915T>C , CM000671.2:g.133647915T>C | GRCh38 |
| NC_000009.11:g.136513037T>C , CM000671.1:g.136513037T>C | GRCh37 |
| NC_000009.10:g.135502858T>C | NCBI36 |
| NG_008645.1:g.16553T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1094T>C MANE Select | ENSP00000376776.2:p.Met365Thr | |
| ENST00000393056.6:c.1094T>C | ENSP00000376776.2:p.Met365Thr | |
| NM_000787.3:c.1094T>C | NP_000778.3:p.Met365Thr | |
| NM_000787.4:c.1094T>C MANE Select | NP_000778.3:p.Met365Thr |