Linked Data
dbSNP Id:
rs10508921
gnomAD v2:
10-52010708-C-T
gnomAD v3:
10-50250948-C-T
gnomAD v4:
10-50250948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.50250948C>T , CM000672.2:g.50250948C>T | GRCh38 |
| NC_000010.10:g.52010708C>T , CM000672.1:g.52010708C>T | GRCh37 |
| NC_000010.9:g.51680714C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682911.1:c.-37+447G>A MANE Select | ENSP00000506746.1:n.-37+447G>A | |
| ENST00000395526.9:c.-37+447G>A | ENSP00000378897.3:n.-37+447G>A | |
| XM_011539970.1:c.-37+447G>A | XP_011538272.1:n.-37+447G>A | |
| XM_011539971.1:c.-37+447G>A | XP_011538273.1:n.-37+447G>A | |
| XM_011539972.1:c.-37+447G>A | XP_011538274.1:n.-37+447G>A | |
| XM_011539973.1:c.-37+447G>A | XP_011538275.1:n.-37+447G>A | |
| XR_945787.1:n.182+447G>A | ||
| XM_011539970.2:c.-37+447G>A | XP_011538272.1:n.-37+447G>A | |
| XM_011539971.2:c.-37+447G>A | XP_011538273.1:n.-37+447G>A | |
| XM_011539972.3:c.-37+447G>A | XP_011538274.1:n.-37+447G>A | |
| XM_011539973.3:c.-37+447G>A | XP_011538275.1:n.-37+447G>A | |
| XM_017016435.1:c.-37+447G>A | XP_016871924.1:n.-37+447G>A | |
| XR_002956990.1:n.169+447G>A | ||
| NM_001143974.3:c.-37+447G>A | NP_001137446.1:n.-37+447G>A | |
| NM_019893.4:c.-37+447G>A MANE Select | NP_063946.2:n.-37+447G>A |