Linked Data
dbSNP Id:
rs570638644
gnomAD v2:
4-89811200-A-G
gnomAD v3:
4-88890049-A-G
gnomAD v4:
4-88890049-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88890049A>G , CM000666.2:g.88890049A>G | GRCh38 |
| NC_000004.11:g.89811200A>G , CM000666.1:g.89811200A>G | GRCh37 |
| NC_000004.10:g.90030223A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264344.10:c.843+16330T>C MANE Select | ENSP00000264344.5:n.843+16330T>C | |
| ENST00000264344.9:c.843+16330T>C | ENSP00000264344.5:n.843+16330T>C | |
| ENST00000502459.5:n.1301+16330T>C | ||
| ENST00000511145.1:n.226+15637T>C | ||
| ENST00000511976.5:c.216+16330T>C | ENSP00000421914.1:n.216+16330T>C | |
| ENST00000512339.5:c.*212+16330T>C | ENSP00000423800.1:n.*212+16330T>C | |
| NM_014883.3:c.843+16330T>C | NP_055698.2:n.843+16330T>C | |
| XM_005262681.2:c.843+16330T>C | XP_005262738.1:n.843+16330T>C | |
| XM_005262682.2:c.783+16330T>C | XP_005262739.1:n.783+16330T>C | |
| XM_005262683.2:c.843+16330T>C | XP_005262740.1:n.843+16330T>C | |
| XM_005262684.2:c.216+16330T>C | XP_005262741.1:n.216+16330T>C | |
| XM_006714057.2:c.276+16330T>C | XP_006714120.1:n.276+16330T>C | |
| XM_011531516.1:c.843+16330T>C | XP_011529818.1:n.843+16330T>C | |
| XM_011531517.1:c.760-38866T>C | XP_011529819.1:n.760-38866T>C | |
| XM_011531518.1:c.285+16330T>C | XP_011529820.1:n.285+16330T>C | |
| XM_011531519.1:c.285+16330T>C | XP_011529821.1:n.285+16330T>C | |
| XM_011531520.1:c.216+16330T>C | XP_011529822.1:n.216+16330T>C | |
| XM_005262681.3:c.843+16330T>C | XP_005262738.1:n.843+16330T>C | |
| XM_005262683.3:c.843+16330T>C | XP_005262740.1:n.843+16330T>C | |
| XM_005262684.4:c.216+16330T>C | XP_005262741.1:n.216+16330T>C | |
| XM_006714057.3:c.276+16330T>C | XP_006714120.1:n.276+16330T>C | |
| XM_011531517.2:c.760-38866T>C | XP_011529819.1:n.760-38866T>C | |
| XM_011531519.3:c.285+16330T>C | XP_011529821.1:n.285+16330T>C | |
| XM_017007624.2:c.843+16330T>C | XP_016863113.1:n.843+16330T>C | |
| XM_017007625.1:c.678+16330T>C | XP_016863114.1:n.678+16330T>C | |
| XM_017007626.1:c.312+16330T>C | XP_016863115.1:n.312+16330T>C | |
| XM_017007627.1:c.216+16330T>C | XP_016863116.1:n.216+16330T>C | |
| XM_017007628.2:c.216+16330T>C | XP_016863117.1:n.216+16330T>C | |
| XM_017007629.2:c.27+16330T>C | XP_016863118.1:n.27+16330T>C | |
| XM_017007630.2:c.27+16330T>C | XP_016863119.1:n.27+16330T>C | |
| XM_017007631.2:c.27+16330T>C | XP_016863120.1:n.27+16330T>C | |
| XM_017007632.2:c.27+16330T>C | XP_016863121.1:n.27+16330T>C | |
| XM_017007633.2:c.-120-38866T>C | XP_016863122.1:n.-120-38866T>C | |
| XM_024453870.1:c.843+16330T>C | XP_024309638.1:n.843+16330T>C | |
| NM_014883.4:c.843+16330T>C MANE Select | NP_055698.2:n.843+16330T>C |