Linked Data
dbSNP Id:
rs745917371
ExAC:
17:61555357 T / C
gnomAD v2:
17-61555357-T-C
gnomAD v4:
17-63477996-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63477996T>C , CM000679.2:g.63477996T>C | GRCh38 |
| NC_000017.10:g.61555357T>C , CM000679.1:g.61555357T>C | GRCh37 |
| NC_000017.9:g.58909089T>C | NCBI36 |
| NG_011648.1:g.5924T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.315T>C MANE Select | ENSP00000290866.4:p.Tyr105= | |
| ENST00000290866.9:c.315T>C | ENSP00000290866.4:p.Tyr105= | |
| ENST00000428043.5:c.315T>C | ENSP00000397593.2:p.Tyr105= | |
| ENST00000579462.1:n.340T>C | ||
| ENST00000580318.1:n.504T>C | ||
| ENST00000582627.1:c.315T>C | ENSP00000462280.1:p.Tyr105= | |
| ENST00000582678.5:c.315T>C | ENSP00000462995.1:p.Tyr105= | |
| ENST00000583336.5:n.349T>C | ||
| ENST00000584529.5:n.349T>C | ||
| NM_000789.3:c.315T>C | NP_000780.1:p.Tyr105= | |
| XM_005257110.1:c.-141T>C | XP_005257167.1:n.-141T>C | |
| NM_000789.4:c.315T>C MANE Select | NP_000780.1:p.Tyr105= | |
| NM_001382700.1:c.80T>C | NP_001369629.1:p.Met27Thr | |
| NM_001382701.1:c.-300T>C | NP_001369630.1:n.-300T>C |