Linked Data
dbSNP Id:
rs2099904396
gnomAD v4:
5-141626105-C-G
MyVariant Identifiers:
chr5:g.141005672C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141626105C>G , CM000667.2:g.141626105C>G | GRCh38 |
| NC_000005.9:g.141005672C>G , CM000667.1:g.141005672C>G | GRCh37 |
| NC_000005.8:g.140985856C>G | NCBI36 |
| NG_029678.1:g.15752G>C | |
| NG_029678.2:g.15752G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305264.8:c.921-34G>C MANE Select | ENSP00000302967.3:n.921-34G>C | |
| ENST00000305264.7:c.921-34G>C | ENSP00000302967.3:n.921-34G>C | |
| ENST00000459727.5:n.233+89G>C | ||
| ENST00000467533.5:n.599+89G>C | ||
| ENST00000469550.6:n.994-34G>C | ||
| ENST00000475549.1:n.252-34G>C | ||
| ENST00000486618.1:n.381G>C | ||
| ENST00000491581.5:n.135-34G>C | ||
| ENST00000492407.1:n.767+89G>C | ||
| NM_003883.3:c.921-34G>C | NP_003874.2:n.921-34G>C | |
| XM_011537697.1:c.360-34G>C | XP_011535999.1:n.360-34G>C | |
| XR_944336.1:n.1006-34G>C | ||
| NM_001355039.1:c.921-34G>C | NP_001341968.1:n.921-34G>C | |
| NM_001355040.1:c.462-34G>C | NP_001341969.1:n.462-34G>C | |
| NM_001355041.1:c.360-34G>C | NP_001341970.1:n.360-34G>C | |
| NR_149164.1:n.987-34G>C | ||
| NR_149165.1:n.869-34G>C | ||
| NR_149166.1:n.843+89G>C | ||
| NR_149167.1:n.1011+89G>C | ||
| NR_149168.1:n.1012-34G>C | ||
| NR_149169.1:n.1012-34G>C | ||
| NM_003883.4:c.921-34G>C MANE Select | NP_003874.2:n.921-34G>C | |
| NM_001355039.2:c.921-34G>C | NP_001341968.1:n.921-34G>C | |
| NR_149167.2:n.1004+89G>C | ||
| NM_001355040.2:c.462-34G>C | NP_001341969.1:n.462-34G>C | |
| NM_001355041.2:c.360-34G>C | NP_001341970.1:n.360-34G>C | |
| NR_149164.2:n.980-34G>C | ||
| NR_149165.2:n.862-34G>C | ||
| NR_149166.2:n.836+89G>C | ||
| NR_149168.2:n.1005-34G>C | ||
| NR_149169.2:n.1005-34G>C |