Linked Data
dbSNP Id:
rs2038911527
gnomAD v4:
17-74919747-C-G
MyVariant Identifiers:
chr17:g.72915842C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919747C>G , CM000679.2:g.74919747C>G | GRCh38 |
| NC_000017.10:g.72915842C>G , CM000679.1:g.72915842C>G | GRCh37 |
| NC_000017.9:g.70427437C>G | NCBI36 |
| NG_007882.1:g.8510G>C | |
| NG_033062.1:g.473C>G | |
| NG_007882.2:g.8517G>C | |
| NG_033062.2:g.473C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1089G>C MANE Select | ENSP00000480279.1:p.Leu363= | |
| ENST00000579243.1:c.*688G>C | ENSP00000462568.1:n.*688G>C | |
| ENST00000614341.4:c.1089G>C | ENSP00000480279.1:p.Leu363= | |
| NM_001282489.2:c.780G>C | NP_001269418.1:p.Leu260= | |
| NM_173477.4:c.1089G>C | NP_775748.2:p.Leu363= | |
| XM_011524296.1:c.780G>C | XP_011522598.1:p.Leu260= | |
| XM_011524296.2:c.780G>C | XP_011522598.1:p.Leu260= | |
| NM_173477.5:c.1089G>C MANE Select | NP_775748.2:p.Leu363= | |
| NM_001282489.3:c.780G>C | NP_001269418.1:p.Leu260= |