Linked Data
ClinVar Variation Id:
546459
ClinVar RCV Id:
RCV000658339
dbSNP Id:
rs1555389685
COSMIC:
COSM3386841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299406G>T , CM000677.2:g.38299406G>T | GRCh38 |
| NC_000015.9:g.38591607G>T , CM000677.1:g.38591607G>T | GRCh37 |
| NC_000015.8:g.36378899G>T | NCBI36 |
| NG_008980.1:g.51556G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.66G>T MANE Select | ENSP00000299084.4:p.Met22Ile | |
| ENST00000299084.8:c.66G>T | ENSP00000299084.4:p.Met22Ile | |
| ENST00000561205.1:n.404G>T | ||
| ENST00000561317.1:c.3G>T | ENSP00000453680.1:p.Met1Ile | |
| NM_152594.2:c.66G>T | NP_689807.1:p.Met22Ile | |
| XM_005254202.2:c.102G>T | XP_005254259.1:p.Met34Ile | |
| XM_005254203.3:c.-15-22835G>T | XP_005254260.1:n.-15-22835G>T | |
| XM_011521288.1:c.3G>T | XP_011519590.1:p.Met1Ile | |
| XM_011521289.1:c.3G>T | XP_011519591.1:p.Met1Ile | |
| XM_011521290.1:c.3G>T | XP_011519592.1:p.Met1Ile | |
| XM_005254202.3:c.102G>T | XP_005254259.1:p.Met34Ile | |
| XM_011521289.3:c.3G>T | XP_011519591.1:p.Met1Ile | |
| NM_152594.3:c.66G>T MANE Select | NP_689807.1:p.Met22Ile |