gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169426235C>T , CM000666.2:g.169426235C>T | GRCh38 |
| NC_000004.11:g.170347386C>T , CM000666.1:g.170347386C>T | GRCh37 |
| NC_000004.10:g.170583961C>T | NCBI36 |
| NG_027982.1:g.191393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.2718-1G>A | ENSP00000508844.1:n.2718-1G>A | |
| ENST00000685677.1:n.2184-1G>A | ||
| ENST00000686697.1:c.2403-1G>A | ENSP00000508689.1:n.2403-1G>A | |
| ENST00000687054.1:n.3380-1G>A | ||
| ENST00000687528.1:c.*1621-1G>A | ENSP00000510228.1:n.*1621-1G>A | |
| ENST00000687643.1:c.2829-1G>A | ENSP00000509309.1:n.2829-1G>A | |
| ENST00000688934.1:c.909-1G>A | ENSP00000510760.1:n.909-1G>A | |
| ENST00000690540.1:n.2336-1G>A | ||
| ENST00000507142.6:c.2886-1G>A MANE Select | ENSP00000424757.2:n.2886-1G>A | |
| ENST00000638824.1:n.1014-1G>A | ||
| ENST00000439128.6:c.2802-1G>A | ENSP00000408020.2:n.2802-1G>A | |
| ENST00000507142.5:c.2886-1G>A | ENSP00000424757.1:n.2886-1G>A | |
| ENST00000510533.5:c.2670-1G>A | ENSP00000427653.1:n.2670-1G>A | |
| ENST00000511633.5:c.2754-1G>A | ENSP00000423332.1:n.2754-1G>A | |
| ENST00000512193.5:c.2595-1G>A | ENSP00000424938.1:n.2595-1G>A | |
| NM_001199397.1:c.2886-1G>A | NP_001186326.1:n.2886-1G>A | |
| NM_001199398.1:c.2754-1G>A | NP_001186327.1:n.2754-1G>A | |
| NM_001199399.1:c.2595-1G>A | NP_001186328.1:n.2595-1G>A | |
| NM_001199400.1:c.2670-1G>A | NP_001186329.1:n.2670-1G>A | |
| NM_012224.2:c.2802-1G>A | NP_036356.1:n.2802-1G>A | |
| XM_006714228.1:c.2709-1G>A | XP_006714291.1:n.2709-1G>A | |
| XM_011532003.1:c.2802-1G>A | XP_011530305.1:n.2802-1G>A | |
| XM_011532004.1:c.2670-1G>A | XP_011530306.1:n.2670-1G>A | |
| XM_017008249.1:c.2265-1G>A | XP_016863738.1:n.2265-1G>A | |
| XM_017008251.1:c.2181-1G>A | XP_016863740.1:n.2181-1G>A | |
| XM_017008252.2:c.2181-1G>A | XP_016863741.1:n.2181-1G>A | |
| XM_017008253.1:c.1734-1G>A | XP_016863742.1:n.1734-1G>A | |
| XM_017008254.1:c.1530-1G>A | XP_016863743.1:n.1530-1G>A | |
| XM_024454065.1:c.2265-1G>A | XP_024309833.1:n.2265-1G>A | |
| XR_001741233.1:n.3171-1G>A | ||
| NM_001199397.3:c.2886-1G>A MANE Select | NP_001186326.1:n.2886-1G>A | |
| NM_001199398.2:c.2754-1G>A | NP_001186327.1:n.2754-1G>A | |
| NM_001199399.2:c.2595-1G>A | NP_001186328.1:n.2595-1G>A | |
| NM_001199400.2:c.2670-1G>A | NP_001186329.1:n.2670-1G>A | |
| NM_001374418.1:c.2886-1G>A | NP_001361347.1:n.2886-1G>A | |
| NM_001374419.1:c.2802-1G>A | NP_001361348.1:n.2802-1G>A | |
| NM_001374420.1:c.2751-1G>A | NP_001361349.1:n.2751-1G>A | |
| NM_001374421.1:c.2403-1G>A | NP_001361350.1:n.2403-1G>A | |
| NM_012224.3:c.2802-1G>A | NP_036356.1:n.2802-1G>A | |
| NR_164630.1:n.3348-1G>A | ||
| NM_001199398.3:c.2754-1G>A | NP_001186327.1:n.2754-1G>A | |
| NM_001199399.3:c.2595-1G>A | NP_001186328.1:n.2595-1G>A | |
| NM_001199400.3:c.2670-1G>A | NP_001186329.1:n.2670-1G>A | |
| NM_012224.4:c.2802-1G>A | NP_036356.1:n.2802-1G>A |