Linked Data
dbSNP Id:
rs1278761839
gnomAD v2:
17-61555363-G-C
gnomAD v3:
17-63478002-G-C
gnomAD v4:
17-63478002-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63478002G>C , CM000679.2:g.63478002G>C | GRCh38 |
| NC_000017.10:g.61555363G>C , CM000679.1:g.61555363G>C | GRCh37 |
| NC_000017.9:g.58909095G>C | NCBI36 |
| NG_011648.1:g.5930G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.321G>C MANE Select | ENSP00000290866.4:p.Pro107= | |
| ENST00000290866.9:c.321G>C | ENSP00000290866.4:p.Pro107= | |
| ENST00000428043.5:c.321G>C | ENSP00000397593.2:p.Pro107= | |
| ENST00000579462.1:n.346G>C | ||
| ENST00000580318.1:n.510G>C | ||
| ENST00000582627.1:c.321G>C | ENSP00000462280.1:p.Pro107= | |
| ENST00000582678.5:c.321G>C | ENSP00000462995.1:p.Pro107= | |
| ENST00000583336.5:n.355G>C | ||
| ENST00000584529.5:n.355G>C | ||
| NM_000789.3:c.321G>C | NP_000780.1:p.Pro107= | |
| XM_005257110.1:c.-135G>C | XP_005257167.1:n.-135G>C | |
| NM_000789.4:c.321G>C MANE Select | NP_000780.1:p.Pro107= | |
| NM_001382700.1:c.86G>C | NP_001369629.1:p.Arg29Pro | |
| NM_001382701.1:c.-294G>C | NP_001369630.1:n.-294G>C |