Linked Data
dbSNP Id:
rs869833
gnomAD v2:
2-103383131-T-C
gnomAD v3:
2-102766672-T-C
gnomAD v4:
2-102766672-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102766672T>C , CM000664.2:g.102766672T>C | GRCh38 |
| NC_000002.11:g.103383131T>C , CM000664.1:g.103383131T>C | GRCh37 |
| NC_000002.10:g.102749563T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412401.3:c.331+2245T>C MANE Select | ENSP00000394178.2:n.331+2245T>C | |
| ENST00000639249.1:c.43+2245T>C | ENSP00000491614.1:n.43+2245T>C | |
| ENST00000640575.2:c.331+2245T>C | ENSP00000492657.2:n.331+2245T>C | |
| ENST00000409173.5:c.202+2245T>C | ENSP00000387184.1:n.202+2245T>C | |
| ENST00000409528.5:c.43+2245T>C | ENSP00000387258.1:n.43+2245T>C | |
| ENST00000412401.2:c.331+2245T>C | ENSP00000394178.2:n.331+2245T>C | |
| ENST00000454536.5:c.202+2245T>C | ENSP00000392106.1:n.202+2245T>C | |
| ENST00000469971.5:n.281+2245T>C | ||
| ENST00000486293.1:n.187+2245T>C | ||
| ENST00000488134.5:n.267+2245T>C | ||
| NM_144632.3:c.331+2245T>C | NP_653233.3:n.331+2245T>C | |
| XM_006712287.1:c.331+2245T>C | XP_006712350.1:n.331+2245T>C | |
| XM_006712288.2:c.331+2245T>C | XP_006712351.1:n.331+2245T>C | |
| XM_011510630.1:c.202+2245T>C | XP_011508932.1:n.202+2245T>C | |
| XM_011510631.1:c.202+2245T>C | XP_011508933.1:n.202+2245T>C | |
| XM_011510632.1:c.331+2245T>C | XP_011508934.1:n.331+2245T>C | |
| XR_427070.1:n.516+2245T>C | ||
| NM_001321343.1:c.202+2245T>C | NP_001308272.1:n.202+2245T>C | |
| NM_001321344.1:c.202+2245T>C | NP_001308273.1:n.202+2245T>C | |
| NM_001321345.1:c.43+2245T>C | NP_001308274.1:n.43+2245T>C | |
| NM_001321346.1:c.43+2245T>C | NP_001308275.1:n.43+2245T>C | |
| NM_144632.4:c.331+2245T>C | NP_653233.4:n.331+2245T>C | |
| XM_006712288.3:c.331+2245T>C | XP_006712351.1:n.331+2245T>C | |
| XM_011510632.2:c.331+2245T>C | XP_011508934.1:n.331+2245T>C | |
| XM_017003375.1:c.331+2245T>C | XP_016858864.1:n.331+2245T>C | |
| XM_017003376.1:c.43+2245T>C | XP_016858865.1:n.43+2245T>C | |
| XR_427070.2:n.516+2245T>C | ||
| NM_144632.5:c.331+2245T>C MANE Select | NP_653233.5:n.331+2245T>C | |
| NM_001321343.2:c.202+2245T>C | NP_001308272.2:n.202+2245T>C | |
| NM_001321344.2:c.202+2245T>C | NP_001308273.2:n.202+2245T>C | |
| NM_001321345.2:c.43+2245T>C | NP_001308274.2:n.43+2245T>C | |
| NM_001321346.2:c.43+2245T>C | NP_001308275.2:n.43+2245T>C |