Linked Data
dbSNP Id:
rs1240602516
gnomAD v2:
1-16094939-T-G
gnomAD v3:
1-15768444-T-G
gnomAD v4:
1-15768444-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15768444T>G , CM000663.2:g.15768444T>G | GRCh38 |
| NC_000001.10:g.16094939T>G , CM000663.1:g.16094939T>G | GRCh37 |
| NC_000001.9:g.15967526T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375766.8:c.439-84T>G MANE Select | ENSP00000364921.3:n.439-84T>G | |
| ENST00000332305.5:c.251-1965T>G | ENSP00000364920.2:n.251-1965T>G | |
| ENST00000375766.7:c.439-84T>G | ENSP00000364921.3:n.439-84T>G | |
| ENST00000375771.5:c.439-84T>G | ENSP00000364926.1:n.439-84T>G | |
| ENST00000441801.6:c.439-84T>G | ENSP00000416387.2:n.439-84T>G | |
| ENST00000502739.5:c.251-1965T>G | ENSP00000424920.1:n.251-1965T>G | |
| NM_001024215.1:c.439-84T>G | NP_001019386.1:n.439-84T>G | |
| NM_001024216.1:c.251-1965T>G | NP_001019387.1:n.251-1965T>G | |
| NM_017556.2:c.439-84T>G | NP_060026.2:n.439-84T>G | |
| XM_005245900.1:c.439-84T>G | XP_005245957.1:n.439-84T>G | |
| XM_005245901.1:c.439-84T>G | XP_005245958.1:n.439-84T>G | |
| XM_005245902.1:c.439-84T>G | XP_005245959.1:n.439-84T>G | |
| XM_005245903.1:c.439-84T>G | XP_005245960.1:n.439-84T>G | |
| XM_005245909.2:c.439-84T>G | XP_005245966.1:n.439-84T>G | |
| XM_006710704.2:c.439-84T>G | XP_006710767.1:n.439-84T>G | |
| XM_006710705.1:c.439-84T>G | XP_006710768.1:n.439-84T>G | |
| XM_011541616.1:c.439-84T>G | XP_011539918.1:n.439-84T>G | |
| XM_011541617.1:c.439-84T>G | XP_011539919.1:n.439-84T>G | |
| XM_011541618.1:c.439-84T>G | XP_011539920.1:n.439-84T>G | |
| XM_011541619.1:c.251-1965T>G | XP_011539921.1:n.251-1965T>G | |
| XR_946670.1:n.949-84T>G | ||
| NM_001024216.2:c.251-1965T>G | NP_001019387.1:n.251-1965T>G | |
| NM_001350151.1:c.439-84T>G | NP_001337080.1:n.439-84T>G | |
| NM_017556.3:c.439-84T>G | NP_060026.2:n.439-84T>G | |
| XM_006710704.3:c.439-84T>G | XP_006710767.1:n.439-84T>G | |
| XM_011541616.2:c.439-84T>G | XP_011539918.1:n.439-84T>G | |
| XM_011541617.2:c.439-84T>G | XP_011539919.1:n.439-84T>G | |
| XM_011541618.3:c.439-84T>G | XP_011539920.1:n.439-84T>G | |
| XM_017001519.2:c.439-84T>G | XP_016857008.1:n.439-84T>G | |
| XM_017001520.2:c.439-84T>G | XP_016857009.1:n.439-84T>G | |
| XM_017001521.2:c.439-84T>G | XP_016857010.1:n.439-84T>G | |
| XM_017001523.1:c.439-84T>G | XP_016857012.1:n.439-84T>G | |
| XM_017001524.1:c.439-84T>G | XP_016857013.1:n.439-84T>G | |
| XM_017001525.1:c.439-84T>G | XP_016857014.1:n.439-84T>G | |
| XM_017001526.2:c.439-84T>G | XP_016857015.1:n.439-84T>G | |
| XM_024447751.1:c.439-84T>G | XP_024303519.1:n.439-84T>G | |
| NM_017556.4:c.439-84T>G MANE Select | NP_060026.2:n.439-84T>G | |
| NM_001024216.3:c.251-1965T>G | NP_001019387.1:n.251-1965T>G | |
| NM_001350151.2:c.439-84T>G | NP_001337080.1:n.439-84T>G |