Linked Data
ClinVar Variation Id:
464180
dbSNP Id:
rs373607885
ExAC:
2:219746985 G / T
gnomAD v2:
2-219746985-G-T
gnomAD v3:
2-218882263-G-T
gnomAD v4:
2-218882263-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882263G>T , CM000664.2:g.218882263G>T | GRCh38 |
| NC_000002.11:g.219746985G>T , CM000664.1:g.219746985G>T | GRCh37 |
| NC_000002.10:g.219455229G>T | NCBI36 |
| NG_012179.1:g.6731G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.216G>T MANE Select | ENSP00000258411.3:p.Met72Ile | |
| ENST00000258411.7:c.216G>T | ENSP00000258411.3:p.Met72Ile | |
| ENST00000458582.1:c.103G>T | ||
| NM_025216.2:c.216G>T | NP_079492.2:p.Met72Ile | |
| XM_011511928.1:c.165G>T | XP_011510230.1:p.Met55Ile | |
| XM_011511929.1:c.120G>T | XP_011510231.1:p.Met40Ile | |
| XM_011511930.1:c.216G>T | XP_011510232.1:p.Met72Ile | |
| XM_011511929.2:c.120G>T | XP_011510231.1:p.Met40Ile | |
| NM_025216.3:c.216G>T MANE Select | NP_079492.2:p.Met72Ile |