Linked Data
dbSNP Id:
rs1366423369
gnomAD v2:
9-104125029-A-G
gnomAD v4:
9-101362747-A-G
COSMIC:
COSM752274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101362747A>G , CM000671.2:g.101362747A>G | GRCh38 |
| NC_000009.11:g.104125029A>G , CM000671.1:g.104125029A>G | GRCh37 |
| NC_000009.10:g.103164850A>G | NCBI36 |
| NG_009774.1:g.27259T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.938T>C MANE Select | ENSP00000259407.2:p.Ile313Thr | |
| ENST00000395051.4:c.938T>C | ENSP00000378491.3:p.Ile313Thr | |
| ENST00000674556.1:c.938T>C | ENSP00000501610.1:p.Ile313Thr | |
| ENST00000674791.1:c.762+176T>C | ENSP00000501644.1:n.762+176T>C | |
| ENST00000674909.1:c.804+134T>C | ENSP00000502812.1:n.804+134T>C | |
| ENST00000259407.6:c.938T>C | ENSP00000259407.2:p.Ile313Thr | |
| ENST00000395051.3:c.938T>C | ENSP00000378491.3:p.Ile313Thr | |
| NM_001127610.1:c.938T>C | NP_001121082.1:p.Ile313Thr | |
| NM_001701.3:c.938T>C | NP_001692.1:p.Ile313Thr | |
| NM_001127610.2:c.938T>C | NP_001121082.1:p.Ile313Thr | |
| NM_001374715.1:c.938T>C | NP_001361644.1:p.Ile313Thr | |
| NM_001701.4:c.938T>C MANE Select | NP_001692.1:p.Ile313Thr |