Linked Data
dbSNP Id:
rs756338430
ExAC:
2:21229691 A / G
gnomAD v2:
2-21229691-A-G
gnomAD v4:
2-21006819-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21006819A>G , CM000664.2:g.21006819A>G | GRCh38 |
| NC_000002.11:g.21229691A>G , CM000664.1:g.21229691A>G | GRCh37 |
| NC_000002.10:g.21083196A>G | NCBI36 |
| NG_011793.1:g.42255T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.10049T>C MANE Select | ENSP00000233242.1:p.Leu3350Pro | |
| ENST00000616098.4:c.10049T>C | ENSP00000477990.1:p.Leu3350Pro | |
| NM_000384.2:c.10049T>C | NP_000375.2:p.Leu3350Pro | |
| XM_011532809.1:c.5869+3914T>C | XP_011531111.1:n.5869+3914T>C | |
| NM_000384.3:c.10049T>C MANE Select | NP_000375.3:p.Leu3350Pro |