Linked Data
ClinVar Variation Id:
259778
dbSNP Id:
rs2270676
ExAC:
11:74168411 A / G
gnomAD v2:
11-74168411-A-G
gnomAD v3:
11-74457366-A-G
gnomAD v4:
11-74457366-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74457366A>G , CM000673.2:g.74457366A>G | GRCh38 |
| NC_000011.9:g.74168411A>G , CM000673.1:g.74168411A>G | GRCh37 |
| NC_000011.8:g.73846059A>G | NCBI36 |
| NG_011833.1:g.15190T>C , LRG_439:g.15190T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310128.9:c.198T>C MANE Select | ENSP00000310557.4:p.Phe66= | |
| ENST00000310128.8:c.198T>C | ENSP00000310557.4:p.Phe66= | |
| ENST00000525550.1:c.198T>C | ENSP00000433633.1:p.Phe66= | |
| ENST00000532569.5:c.198T>C | ENSP00000431739.1:p.Phe66= | |
| NM_005472.4:c.198T>C , LRG_439t1:c.198T>C | NP_005463.1:p.Phe66= | |
| XM_011544713.1:c.330T>C | XP_011543015.1:p.Phe110= | |
| XM_011544713.2:c.330T>C | XP_011543015.1:p.Phe110= | |
| XM_017017047.1:c.198T>C | XP_016872536.1:p.Phe66= | |
| XM_017017048.1:c.198T>C | XP_016872537.1:p.Phe66= | |
| XM_017017049.1:c.198T>C | XP_016872538.1:p.Phe66= | |
| XM_017017051.2:c.198T>C | XP_016872540.1:p.Phe66= | |
| XM_017017052.1:c.198T>C | XP_016872541.1:p.Phe66= | |
| NM_005472.5:c.198T>C MANE Select | NP_005463.1:p.Phe66= |