Linked Data
dbSNP Id:
rs1026998239
gnomAD v2:
17-59239178-C-T
gnomAD v3:
17-61161817-C-T
gnomAD v4:
17-61161817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61161817C>T , CM000679.2:g.61161817C>T | GRCh38 |
| NC_000017.10:g.59239178C>T , CM000679.1:g.59239178C>T | GRCh37 |
| NC_000017.9:g.56593960C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407086.8:c.2425+77253C>T MANE Select | ENSP00000385323.2:n.2425+77253C>T | |
| ENST00000390652.9:c.2470+77253C>T | ENSP00000375067.4:n.2470+77253C>T | |
| ENST00000407086.7:c.2425+77253C>T | ENSP00000385323.2:n.2425+77253C>T | |
| ENST00000408905.7:c.2425+77253C>T | ENSP00000386173.2:n.2425+77253C>T | |
| ENST00000585744.5:c.1783+77253C>T | ENSP00000468682.1:n.1783+77253C>T | |
| ENST00000585812.5:n.20+4342C>T | ||
| ENST00000585979.5:n.903+77253C>T | ||
| ENST00000587002.1:c.187+77253C>T | ENSP00000464711.1:n.187+77253C>T | |
| ENST00000587294.5:n.90+2366C>T | ||
| ENST00000588462.5:c.2470+77253C>T | ENSP00000468592.1:n.2470+77253C>T | |
| ENST00000588874.5:c.1738+77253C>T | ENSP00000464825.1:n.1738+77253C>T | |
| ENST00000589222.5:c.2425+77253C>T | ENSP00000466078.1:n.2425+77253C>T | |
| NM_001099432.1:c.2470+77253C>T | NP_001092902.1:n.2470+77253C>T | |
| NM_017679.3:c.2425+77253C>T | NP_060149.3:n.2425+77253C>T | |
| XM_005257472.1:c.2470+77253C>T | XP_005257529.1:n.2470+77253C>T | |
| XM_005257475.1:c.2425+77253C>T | XP_005257532.1:n.2425+77253C>T | |
| XM_011524939.1:c.2560+77253C>T | XP_011523241.1:n.2560+77253C>T | |
| XM_011524940.1:c.2515+77253C>T | XP_011523242.1:n.2515+77253C>T | |
| XM_011524941.1:c.2425+77253C>T | XP_011523243.1:n.2425+77253C>T | |
| XM_011524942.1:c.2560+77253C>T | XP_011523244.1:n.2560+77253C>T | |
| XM_011524943.1:c.2515+77253C>T | XP_011523245.1:n.2515+77253C>T | |
| XM_011524944.1:c.2560+77253C>T | XP_011523246.1:n.2560+77253C>T | |
| XM_011524945.1:c.2515+77253C>T | XP_011523247.1:n.2515+77253C>T | |
| XM_011524947.1:c.2560+77253C>T | XP_011523249.1:n.2560+77253C>T | |
| XM_011524949.1:c.2561-73701C>T | XP_011523251.1:n.2561-73701C>T | |
| XM_011524950.1:c.2560+77253C>T | XP_011523252.1:n.2560+77253C>T | |
| XM_011524951.1:c.2561-3216C>T | XP_011523253.1:n.2561-3216C>T | |
| XM_011524952.1:c.1738+77253C>T | XP_011523254.1:n.1738+77253C>T | |
| NM_001099432.2:c.2470+77253C>T | NP_001092902.1:n.2470+77253C>T | |
| NM_001320470.2:c.2425+77253C>T | NP_001307399.1:n.2425+77253C>T | |
| NM_001330413.1:c.2470+77253C>T | NP_001317342.1:n.2470+77253C>T | |
| NM_001330414.1:c.2425+77253C>T | NP_001317343.1:n.2425+77253C>T | |
| NM_001353144.1:c.2560+77253C>T | NP_001340073.1:n.2560+77253C>T | |
| NM_001353145.1:c.2515+77253C>T | NP_001340074.1:n.2515+77253C>T | |
| NM_001353146.1:c.2470+77253C>T | NP_001340075.1:n.2470+77253C>T | |
| NM_017679.4:c.2425+77253C>T | NP_060149.3:n.2425+77253C>T | |
| XM_011524939.2:c.2560+77253C>T | XP_011523241.1:n.2560+77253C>T | |
| XM_011524940.2:c.2515+77253C>T | XP_011523242.1:n.2515+77253C>T | |
| XM_011524941.2:c.2425+77253C>T | XP_011523243.1:n.2425+77253C>T | |
| XM_011524942.3:c.2560+77253C>T | XP_011523244.1:n.2560+77253C>T | |
| XM_011524943.3:c.2515+77253C>T | XP_011523245.1:n.2515+77253C>T | |
| XM_011524947.2:c.2560+77253C>T | XP_011523249.1:n.2560+77253C>T | |
| XM_011524949.3:c.2561-73701C>T | XP_011523251.1:n.2561-73701C>T | |
| XM_011524950.2:c.2560+77253C>T | XP_011523252.1:n.2560+77253C>T | |
| XM_011524951.3:c.2561-3216C>T | XP_011523253.1:n.2561-3216C>T | |
| XM_017024783.2:c.2560+77253C>T | XP_016880272.1:n.2560+77253C>T | |
| XM_017024784.2:c.2560+77253C>T | XP_016880273.1:n.2560+77253C>T | |
| XM_017024785.2:c.2560+77253C>T | XP_016880274.1:n.2560+77253C>T | |
| XM_017024786.2:c.2470+77253C>T | XP_016880275.1:n.2470+77253C>T | |
| XM_017024787.2:c.2560+77253C>T | XP_016880276.1:n.2560+77253C>T | |
| XM_017024788.2:c.2560+77253C>T | XP_016880277.1:n.2560+77253C>T | |
| XM_017024789.2:c.2560+77253C>T | XP_016880278.1:n.2560+77253C>T | |
| XM_017024790.2:c.2470+77253C>T | XP_016880279.1:n.2470+77253C>T | |
| XM_017024793.2:c.2425+77253C>T | XP_016880282.1:n.2425+77253C>T | |
| XM_017024796.1:c.1783+77253C>T | XP_016880285.1:n.1783+77253C>T | |
| XM_024450813.1:c.1738+77253C>T | XP_024306581.1:n.1738+77253C>T | |
| NM_001099432.3:c.2470+77253C>T | NP_001092902.1:n.2470+77253C>T | |
| NM_001320470.3:c.2425+77253C>T | NP_001307399.1:n.2425+77253C>T | |
| NM_001330413.2:c.2470+77253C>T | NP_001317342.1:n.2470+77253C>T | |
| NM_001330414.2:c.2425+77253C>T | NP_001317343.1:n.2425+77253C>T | |
| NM_001353144.2:c.2560+77253C>T | NP_001340073.1:n.2560+77253C>T | |
| NM_001353145.2:c.2515+77253C>T | NP_001340074.1:n.2515+77253C>T | |
| NM_001353146.2:c.2470+77253C>T | NP_001340075.1:n.2470+77253C>T | |
| NM_017679.5:c.2425+77253C>T MANE Select | NP_060149.3:n.2425+77253C>T |