Linked Data
dbSNP Id:
rs1750843192
gnomAD v4:
5-137639071-A-G
MyVariant Identifiers:
chr5:g.136974760A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639071A>G , CM000667.2:g.137639071A>G | GRCh38 |
| NC_000005.9:g.136974760A>G , CM000667.1:g.136974760A>G | GRCh37 |
| NC_000005.8:g.137002659A>G | NCBI36 |
| NG_032569.1:g.102020T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1101T>C MANE Select | ENSP00000312397.4:p.Tyr367= | |
| ENST00000309755.8:c.1101T>C | ENSP00000312397.4:p.Tyr367= | |
| ENST00000502381.1:n.688T>C | ||
| ENST00000504208.5:c.*335-10634T>C | ENSP00000423585.1:n.*335-10634T>C | |
| ENST00000505853.1:c.981T>C | ENSP00000426173.1:p.Tyr327= | |
| ENST00000506491.5:c.855T>C | ENSP00000424828.1:p.Tyr285= | |
| ENST00000506873.5:n.726T>C | ||
| ENST00000508657.5:c.1005T>C | ENSP00000422099.1:p.Tyr335= | |
| NM_001257194.1:c.1005T>C | NP_001244123.1:p.Tyr335= | |
| NM_001257195.1:c.855T>C | NP_001244124.1:p.Tyr285= | |
| NM_017415.2:c.1101T>C | NP_059111.2:p.Tyr367= | |
| NM_017415.3:c.1101T>C MANE Select | NP_059111.2:p.Tyr367= | |
| NM_001257195.2:c.855T>C | NP_001244124.1:p.Tyr285= |