Linked Data
dbSNP Id:
rs774834273
ExAC:
11:65978685 C / T
gnomAD v2:
11-65978685-C-T
gnomAD v4:
11-66211214-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211214C>T , CM000673.2:g.66211214C>T | GRCh38 |
| NC_000011.9:g.65978685C>T , CM000673.1:g.65978685C>T | GRCh37 |
| NC_000011.8:g.65735261C>T | NCBI36 |
| NG_033900.1:g.145862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.615C>T MANE Select | ENSP00000316454.4:p.Ile205= | |
| ENST00000320580.8:c.615C>T | ENSP00000316454.4:p.Ile205= | |
| ENST00000527224.1:n.739C>T | ||
| ENST00000527380.1:c.321C>T | ENSP00000432639.1:p.Ile107= | |
| ENST00000533756.5:c.306C>T | ENSP00000437150.1:p.Ile102= | |
| NM_018026.3:c.615C>T | NP_060496.2:p.Ile205= | |
| XM_011545162.1:c.294C>T | XP_011543464.1:p.Ile98= | |
| XM_011545163.1:c.285C>T | XP_011543465.1:p.Ile95= | |
| XM_011545164.1:c.276C>T | XP_011543466.1:p.Ile92= | |
| XM_011545164.2:c.276C>T | XP_011543466.1:p.Ile92= | |
| XR_001747924.1:n.826C>T | ||
| NM_018026.4:c.615C>T MANE Select | NP_060496.2:p.Ile205= |