Linked Data
dbSNP Id:
rs753982568
ExAC:
19:4099176 G / C
gnomAD v2:
19-4099176-G-C
gnomAD v4:
19-4099178-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099178G>C , CM000681.2:g.4099178G>C | GRCh38 |
| NC_000019.9:g.4099176G>C , CM000681.1:g.4099176G>C | GRCh37 |
| NC_000019.8:g.4050176G>C | NCBI36 |
| NG_007996.1:g.29951C>G , LRG_750:g.29951C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1358+23C>G | ||
| ENST00000687128.1:n.1381C>G | ||
| ENST00000688002.1:n.1236C>G | ||
| ENST00000689792.1:n.823+23C>G | ||
| ENST00000262948.10:c.919+23C>G MANE Select | ENSP00000262948.4:n.919+23C>G | |
| ENST00000262948.9:c.919+23C>G | ENSP00000262948.3:n.919+23C>G | |
| ENST00000394867.8:c.628+23C>G | ENSP00000378336.1:n.628+23C>G | |
| ENST00000595715.1:n.734+23C>G | ||
| ENST00000597263.5:n.169+1841C>G | ||
| ENST00000599021.1:c.30-1835C>G | ||
| ENST00000600584.5:n.1479+23C>G | ||
| ENST00000601786.5:n.1220+23C>G | ||
| NM_030662.3:c.919+23C>G , LRG_750t1:c.919+23C>G | NP_109587.1:n.919+23C>G | |
| XM_006722799.2:c.705+1841C>G | XP_006722862.1:n.705+1841C>G | |
| XM_011528133.1:c.349+23C>G | XP_011526435.1:n.349+23C>G | |
| XM_017026989.1:c.919+23C>G | XP_016882478.1:n.919+23C>G | |
| XM_017026990.1:c.705+1841C>G | XP_016882479.1:n.705+1841C>G | |
| NM_030662.4:c.919+23C>G MANE Select | NP_109587.1:n.919+23C>G |