Linked Data
dbSNP Id:
rs761654062
ExAC:
8:94821226 C / A
gnomAD v2:
8-94821226-C-A
gnomAD v4:
8-93808998-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93808998C>A , CM000670.2:g.93808998C>A | GRCh38 |
| NC_000008.10:g.94821226C>A , CM000670.1:g.94821226C>A | GRCh37 |
| NC_000008.9:g.94890402C>A | NCBI36 |
| NG_009190.1:g.59155C>A , LRG_688:g.59155C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2556+42C>A | ENSP00000314488.4:n.2556+42C>A | |
| ENST00000409623.8:c.2511+42C>A | ENSP00000386966.4:n.2511+42C>A | |
| ENST00000452276.6:c.2439+42C>A | ENSP00000388671.2:n.2439+42C>A | |
| ENST00000453906.6:c.1674+42C>A | ENSP00000403035.2:n.1674+42C>A | |
| ENST00000518896.2:c.847+42C>A | ENSP00000507992.1:n.847+42C>A | |
| ENST00000520680.2:c.2679+42C>A | ENSP00000428785.2:n.2679+42C>A | |
| ENST00000521517.6:c.2457+42C>A | ENSP00000430740.2:n.2457+42C>A | |
| ENST00000681998.1:c.2377+42C>A | ENSP00000506773.1:n.2377+42C>A | |
| ENST00000682036.1:c.1797+42C>A | ENSP00000508390.1:n.1797+42C>A | |
| ENST00000682577.1:c.2329+42C>A | ENSP00000506963.1:n.2329+42C>A | |
| ENST00000682624.1:c.*2130+42C>A | ENSP00000508343.1:n.*2130+42C>A | |
| ENST00000682700.1:c.2556+42C>A | ENSP00000507627.1:n.2556+42C>A | |
| ENST00000682744.1:n.2094+42C>A | ||
| ENST00000682804.1:n.2379+42C>A | ||
| ENST00000682837.1:c.2045+42C>A | ENSP00000507920.1:n.2045+42C>A | |
| ENST00000682935.1:n.4606+42C>A | ||
| ENST00000682984.1:c.2217+42C>A | ENSP00000507209.1:n.2217+42C>A | |
| ENST00000683078.1:c.2311+42C>A | ENSP00000506796.1:n.2311+42C>A | |
| ENST00000683223.1:c.2288+42C>A | ENSP00000507685.1:n.2288+42C>A | |
| ENST00000683238.1:n.3780+42C>A | ||
| ENST00000683249.1:n.4153+42C>A | ||
| ENST00000683336.1:c.2377+42C>A | ENSP00000507695.1:n.2377+42C>A | |
| ENST00000683362.1:c.2217+42C>A | ENSP00000506985.1:n.2217+42C>A | |
| ENST00000683850.1:n.2479+42C>A | ||
| ENST00000683919.1:c.2486+42C>A | ENSP00000507617.1:n.2486+42C>A | |
| ENST00000683953.1:c.2467+42C>A | ENSP00000508375.1:n.2467+42C>A | |
| ENST00000684023.1:c.2533+42C>A | ENSP00000507461.1:n.2533+42C>A | |
| ENST00000684064.1:c.2247+42C>A | ENSP00000508192.1:n.2247+42C>A | |
| ENST00000684089.1:n.4106+42C>A | ||
| ENST00000684149.1:c.*1735+42C>A | ENSP00000507943.1:n.*1735+42C>A | |
| ENST00000684343.1:c.753+42C>A | ENSP00000507591.1:n.753+42C>A | |
| ENST00000684416.1:n.2515+42C>A | ||
| ENST00000684540.1:c.2486+42C>A | ENSP00000507987.1:n.2486+42C>A | |
| ENST00000453321.8:c.2556+42C>A MANE Select | ENSP00000389998.3:n.2556+42C>A | |
| ENST00000323130.7:c.2526+42C>A | ENSP00000314488.3:n.2526+42C>A | |
| ENST00000409623.7:c.2313+42C>A | ENSP00000386966.3:n.2313+42C>A | |
| ENST00000453321.7:c.2556+42C>A | ENSP00000389998.3:n.2556+42C>A | |
| ENST00000474944.5:n.1694+42C>A | ||
| ENST00000519845.5:n.1288+42C>A | ||
| NM_001142301.1:c.2313+42C>A , LRG_688t2:c.2313+42C>A | NP_001135773.1:n.2313+42C>A | |
| NM_153704.5:c.2556+42C>A , LRG_688t1:c.2556+42C>A | NP_714915.3:n.2556+42C>A | |
| NR_024522.1:n.2627+42C>A | ||
| XM_006716686.2:c.2253+42C>A | XP_006716749.1:n.2253+42C>A | |
| XM_006716687.2:c.1956+42C>A | XP_006716750.1:n.1956+42C>A | |
| XM_011517363.1:c.1674+42C>A | XP_011515665.1:n.1674+42C>A | |
| XR_428387.1:n.2614+42C>A | ||
| XR_928360.1:n.2614+42C>A | ||
| XR_928361.1:n.2614+42C>A | ||
| XR_928362.1:n.2614+42C>A | ||
| XM_006716686.4:c.2253+42C>A | XP_006716749.1:n.2253+42C>A | |
| XM_011517363.3:c.1674+42C>A | XP_011515665.1:n.1674+42C>A | |
| XM_024447326.1:c.1902+42C>A | XP_024303094.1:n.1902+42C>A | |
| XR_001745619.2:n.2597+42C>A | ||
| XR_428387.2:n.2597+42C>A | ||
| XR_928360.3:n.2597+42C>A | ||
| XR_928362.3:n.2597+42C>A | ||
| NM_153704.6:c.2556+42C>A MANE Select | NP_714915.3:n.2556+42C>A | |
| NR_024522.2:n.2577+42C>A |