Linked Data
ClinVar Variation Id:
324967
ClinVar RCV Id:
RCV000305503
dbSNP Id:
rs200459268
ExAC:
17:71196791 T / C
gnomAD v2:
17-71196791-T-C
gnomAD v3:
17-73200652-T-C
gnomAD v4:
17-73200652-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73200652T>C , CM000679.2:g.73200652T>C | GRCh38 |
| NC_000017.10:g.71196791T>C , CM000679.1:g.71196791T>C | GRCh37 |
| NC_000017.9:g.68708386T>C | NCBI36 |
| NG_008971.1:g.12619T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299886.9:c.1157T>C MANE Select | ENSP00000299886.4:p.Met386Thr | |
| ENST00000299886.8:c.1157T>C | ENSP00000299886.4:p.Met386Thr | |
| ENST00000438720.7:c.1155T>C | ||
| ENST00000618996.4:c.1157T>C | ENSP00000479450.1:p.Met386Thr | |
| NM_018714.2:c.1157T>C | NP_061184.1:p.Met386Thr | |
| NM_018714.3:c.1157T>C MANE Select | NP_061184.1:p.Met386Thr |