Linked Data
dbSNP Id:
rs2067474
gnomAD v2:
5-175109219-G-A
gnomAD v3:
5-175682216-G-A
gnomAD v4:
5-175682216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175682216G>A , CM000667.2:g.175682216G>A | GRCh38 |
| NC_000005.9:g.175109219G>A , CM000667.1:g.175109219G>A | GRCh37 |
| NC_000005.8:g.175041825G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636584.2:c.-525-493G>A MANE Select | ENSP00000489742.1:n.-525-493G>A | |
| ENST00000377291.2:c.-525-493G>A | ENSP00000366506.2:n.-525-493G>A | |
| NM_001131055.1:c.-525-493G>A | NP_001124527.1:n.-525-493G>A | |
| NM_022304.2:c.-1018G>A | NP_071640.1:n.-1018G>A | |
| XM_005265904.2:c.-525-493G>A | XP_005265961.1:n.-525-493G>A | |
| XM_006714864.2:c.-525-493G>A | XP_006714927.1:n.-525-493G>A | |
| XM_006714865.2:c.-525-493G>A | XP_006714928.1:n.-525-493G>A | |
| XM_011534548.1:c.-525-493G>A | XP_011532850.1:n.-525-493G>A | |
| XM_011534549.1:c.-525-493G>A | XP_011532851.1:n.-525-493G>A | |
| XR_245274.2:n.361-493G>A | ||
| XM_005265904.3:c.-525-493G>A | XP_005265961.1:n.-525-493G>A | |
| XM_006714864.4:c.-525-493G>A | XP_006714927.1:n.-525-493G>A | |
| XM_006714865.3:c.-525-493G>A | XP_006714928.1:n.-525-493G>A | |
| XM_011534548.3:c.-525-493G>A | XP_011532850.1:n.-525-493G>A | |
| XM_011534549.3:c.-525-493G>A | XP_011532851.1:n.-525-493G>A | |
| XM_017009426.2:c.-525-493G>A | XP_016864915.1:n.-525-493G>A | |
| XR_245274.3:n.394-493G>A | ||
| NM_001367711.1:c.-525-493G>A MANE Select | NP_001354640.1:n.-525-493G>A | |
| NR_160284.1:n.86-493G>A | ||
| NM_001131055.2:c.-525-493G>A | NP_001124527.1:n.-525-493G>A | |
| NM_001393460.1:c.-525-493G>A | NP_001380389.1:n.-525-493G>A | |
| NM_001393461.1:c.-525-493G>A | NP_001380390.1:n.-525-493G>A | |
| NR_171689.1:n.85+24061G>A |