Linked Data
dbSNP Id:
rs11636753
gnomAD v2:
15-78928946-G-T
gnomAD v3:
15-78636604-G-T
gnomAD v4:
15-78636604-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78636604G>T , CM000677.2:g.78636604G>T | GRCh38 |
| NC_000015.9:g.78928946G>T , CM000677.1:g.78928946G>T | GRCh37 |
| NC_000015.8:g.76716001G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261751.8:c.56-1017C>A MANE Select | ENSP00000261751.3:n.56-1017C>A | |
| ENST00000261751.7:c.56-1017C>A | ENSP00000261751.3:n.56-1017C>A | |
| ENST00000412074.6:c.56-1017C>A | ENSP00000416386.2:n.56-1017C>A | |
| ENST00000559849.5:c.47-1017C>A | ENSP00000457404.1:n.47-1017C>A | |
| ENST00000560511.5:n.410-1017C>A | ||
| NM_000750.3:c.56-1017C>A | NP_000741.1:n.56-1017C>A | |
| NM_001256567.1:c.56-1017C>A | NP_001243496.1:n.56-1017C>A | |
| XM_011521181.1:c.238+333C>A | XP_011519483.1:n.238+333C>A | |
| XM_011521182.1:c.238+333C>A | XP_011519484.1:n.238+333C>A | |
| XM_011521183.1:c.238+333C>A | XP_011519485.1:n.238+333C>A | |
| XM_011521184.1:c.238+333C>A | XP_011519486.1:n.238+333C>A | |
| XM_011521185.1:c.238+333C>A | XP_011519487.1:n.238+333C>A | |
| XM_011521186.1:c.47-1017C>A | XP_011519488.1:n.47-1017C>A | |
| XM_011521187.1:c.47-1017C>A | XP_011519489.1:n.47-1017C>A | |
| XM_011521188.1:c.-36+661C>A | XP_011519490.1:n.-36+661C>A | |
| XM_011521191.1:c.-19+4475C>A | XP_011519493.1:n.-19+4475C>A | |
| XM_011521192.1:c.-639-1017C>A | XP_011519494.1:n.-639-1017C>A | |
| XM_011521193.1:c.238+333C>A | XP_011519495.1:n.238+333C>A | |
| NM_000750.4:c.56-1017C>A | NP_000741.1:n.56-1017C>A | |
| NM_001256567.2:c.56-1017C>A | NP_001243496.1:n.56-1017C>A | |
| XM_011521186.2:c.47-1017C>A | XP_011519488.1:n.47-1017C>A | |
| XM_011521187.2:c.47-1017C>A | XP_011519489.1:n.47-1017C>A | |
| XM_011521191.2:c.-19+4475C>A | XP_011519493.1:n.-19+4475C>A | |
| XM_011521192.2:c.-639-1017C>A | XP_011519494.1:n.-639-1017C>A | |
| XM_017021885.1:c.-36+333C>A | XP_016877374.1:n.-36+333C>A | |
| XM_017021886.1:c.-36+661C>A | XP_016877375.1:n.-36+661C>A | |
| XM_017021887.1:c.56-1017C>A | XP_016877376.1:n.56-1017C>A | |
| XM_017021888.1:c.56-1017C>A | XP_016877377.1:n.56-1017C>A | |
| XM_017021889.2:c.56-1017C>A | XP_016877378.1:n.56-1017C>A | |
| NM_000750.5:c.56-1017C>A MANE Select | NP_000741.1:n.56-1017C>A | |
| NM_001256567.3:c.56-1017C>A | NP_001243496.1:n.56-1017C>A |