Linked Data
dbSNP Id:
rs199839186
ExAC:
14:105207605 C / G
gnomAD v2:
14-105207605-C-G
gnomAD v3:
14-104741268-C-G
gnomAD v4:
14-104741268-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104741268C>G , CM000676.2:g.104741268C>G | GRCh38 |
| NC_000014.8:g.105207605C>G , CM000676.1:g.105207605C>G | GRCh37 |
| NC_000014.7:g.104278650C>G | NCBI36 |
| NG_051175.1:g.22072C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710323.1:c.793+25C>G | ENSP00000518203.1:n.793+25C>G | |
| ENST00000330877.7:c.793+25C>G MANE Select | ENSP00000331260.2:n.793+25C>G | |
| ENST00000330877.6:c.793+25C>G | ENSP00000331260.2:n.793+25C>G | |
| ENST00000332972.9:c.922+25C>G | ENSP00000333019.5:n.922+25C>G | |
| ENST00000553540.5:c.905+25C>G | ENSP00000450759.1:n.905+25C>G | |
| ENST00000555486.5:c.858+25C>G | ENSP00000473778.1:n.858+25C>G | |
| ENST00000557582.5:n.1714+25C>G | ||
| NM_152328.3:c.793+25C>G | NP_689541.1:n.793+25C>G | |
| NM_199165.1:c.922+25C>G | NP_954634.1:n.922+25C>G | |
| XM_006720026.2:c.796+25C>G | XP_006720089.1:n.796+25C>G | |
| XM_011536412.1:c.925+25C>G | XP_011534714.1:n.925+25C>G | |
| XM_011536413.1:c.610+25C>G | XP_011534715.1:n.610+25C>G | |
| XM_011536414.1:c.607+25C>G | XP_011534716.1:n.607+25C>G | |
| XM_011536415.1:c.178+25C>G | XP_011534717.1:n.178+25C>G | |
| NM_001320424.1:c.178+25C>G | NP_001307353.1:n.178+25C>G | |
| NM_152328.4:c.793+25C>G | NP_689541.1:n.793+25C>G | |
| NM_199165.2:c.922+25C>G | NP_954634.1:n.922+25C>G | |
| XM_006720026.3:c.796+25C>G | XP_006720089.1:n.796+25C>G | |
| XM_011536412.2:c.925+25C>G | XP_011534714.1:n.925+25C>G | |
| XR_001750917.1:n.441G>C | ||
| NM_152328.5:c.793+25C>G MANE Select | NP_689541.1:n.793+25C>G |