gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.65151950C>A , CM000667.2:g.65151950C>A | GRCh38 |
| NC_000005.9:g.64447777C>A , CM000667.1:g.64447777C>A | GRCh37 |
| NC_000005.8:g.64483533C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381055.8:c.3245-5G>T MANE Select | ENSP00000370443.3:n.3245-5G>T | |
| ENST00000314351.9:n.905-5G>T | ||
| ENST00000381052.8:c.*2517-5G>T | ENSP00000424377.1:n.*2517-5G>T | |
| ENST00000381055.7:c.3245-5G>T | ENSP00000370443.3:n.3245-5G>T | |
| NM_197941.2:c.3245-5G>T | NP_922932.2:n.3245-5G>T | |
| XM_011543113.1:c.3245-5G>T | XP_011541415.1:n.3245-5G>T | |
| XM_011543114.1:c.3245-5G>T | XP_011541416.1:n.3245-5G>T | |
| XM_011543115.1:c.3095-5G>T | XP_011541417.1:n.3095-5G>T | |
| XM_011543116.1:c.2957-5G>T | XP_011541418.1:n.2957-5G>T | |
| XM_011543117.1:c.2792-5G>T | XP_011541419.1:n.2792-5G>T | |
| XM_011543121.1:c.2471-5G>T | XP_011541423.1:n.2471-5G>T | |
| XM_011543123.1:c.2108-5G>T | XP_011541425.1:n.2108-5G>T | |
| XM_011543124.1:c.1913-5G>T | XP_011541426.1:n.1913-5G>T | |
| XM_011543125.1:c.1778-5G>T | XP_011541427.1:n.1778-5G>T | |
| XR_948232.1:n.4289-5G>T | ||
| NM_197941.3:c.3245-5G>T | NP_922932.2:n.3245-5G>T | |
| NR_135689.1:n.4253-5G>T | ||
| XM_011543113.3:c.3245-5G>T | XP_011541415.1:n.3245-5G>T | |
| XM_011543114.3:c.3245-5G>T | XP_011541416.1:n.3245-5G>T | |
| XM_011543115.3:c.3095-5G>T | XP_011541417.1:n.3095-5G>T | |
| XM_011543116.3:c.2957-5G>T | XP_011541418.1:n.2957-5G>T | |
| XM_011543117.2:c.2792-5G>T | XP_011541419.1:n.2792-5G>T | |
| XM_011543121.2:c.2483-5G>T | XP_011541423.2:n.2483-5G>T | |
| XM_011543123.2:c.2108-5G>T | XP_011541425.1:n.2108-5G>T | |
| XM_011543124.2:c.1913-5G>T | XP_011541426.1:n.1913-5G>T | |
| XR_948232.3:n.4244-5G>T | ||
| NM_197941.4:c.3245-5G>T MANE Select | NP_922932.2:n.3245-5G>T | |
| NR_135689.2:n.4253-5G>T |