Linked Data
dbSNP Id:
rs755716616
ExAC:
5:127673811 A / G
gnomAD v2:
5-127673811-A-G
gnomAD v3:
5-128338119-A-G
gnomAD v4:
5-128338119-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338119A>G , CM000667.2:g.128338119A>G | GRCh38 |
| NC_000005.9:g.127673811A>G , CM000667.1:g.127673811A>G | GRCh37 |
| NC_000005.8:g.127701710A>G | NCBI36 |
| NG_008750.1:g.204925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.260T>C | ||
| ENST00000703785.1:n.341T>C | ||
| ENST00000262464.9:c.3476T>C MANE Select | ENSP00000262464.4:p.Ile1159Thr | |
| ENST00000262464.8:c.3476T>C | ENSP00000262464.4:p.Ile1159Thr | |
| ENST00000507835.5:c.26T>C | ENSP00000426839.1:p.Ile9Thr | |
| ENST00000508053.5:c.3476T>C | ENSP00000424571.1:p.Ile1159Thr | |
| ENST00000508989.5:c.3377T>C | ENSP00000425596.1:p.Ile1126Thr | |
| ENST00000619499.4:c.3473T>C | ENSP00000482132.1:p.Ile1158Thr | |
| NM_001999.3:c.3476T>C | NP_001990.2:p.Ile1159Thr | |
| XM_017009228.2:c.3323T>C | XP_016864717.1:p.Ile1108Thr | |
| NM_001999.4:c.3476T>C MANE Select | NP_001990.2:p.Ile1159Thr |