Linked Data
dbSNP Id:
rs59278883
gnomAD v2:
2-202379828-T-A
gnomAD v3:
2-201515105-T-A
gnomAD v4:
2-201515105-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201515105T>A , CM000664.2:g.201515105T>A | GRCh38 |
| NC_000002.11:g.202379828T>A , CM000664.1:g.202379828T>A | GRCh37 |
| NC_000002.10:g.202088073T>A | NCBI36 |
| NG_051007.1:g.109078A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439140.6:c.1507-19136A>T MANE Select | ENSP00000409937.1:n.1507-19136A>T | |
| ENST00000286195.7:c.1507-19136A>T | ENSP00000286195.3:n.1507-19136A>T | |
| ENST00000439140.5:c.1507-19136A>T | ENSP00000409937.1:n.1507-19136A>T | |
| ENST00000439802.5:c.1163-19136A>T | ENSP00000400672.1:n.1163-19136A>T | |
| NM_001168216.1:c.1163-19136A>T | NP_001161688.1:n.1163-19136A>T | |
| NM_001168221.1:c.1507-19136A>T | NP_001161693.1:n.1507-19136A>T | |
| NM_152525.5:c.1507-19136A>T | NP_689738.3:n.1507-19136A>T | |
| XM_005246347.2:c.1510-19136A>T | XP_005246404.1:n.1510-19136A>T | |
| XM_006712331.2:c.1510-19136A>T | XP_006712394.1:n.1510-19136A>T | |
| XM_006712332.2:c.1509+20916A>T | XP_006712395.1:n.1509+20916A>T | |
| XM_006712333.2:c.1391-19136A>T | XP_006712396.1:n.1391-19136A>T | |
| XM_006712334.2:c.1391-19136A>T | XP_006712397.1:n.1391-19136A>T | |
| XM_006712335.2:c.1390+21035A>T | XP_006712398.1:n.1390+21035A>T | |
| XM_006712336.2:c.1163-27203A>T | XP_006712399.1:n.1163-27203A>T | |
| XM_011510736.1:c.1163-19136A>T | XP_011509038.1:n.1163-19136A>T | |
| XR_922875.1:n.1563-19136A>T | ||
| XR_922876.1:n.1443+21035A>T | ||
| XR_923787.1:n.443+2934T>A | ||
| XR_923788.1:n.443+2934T>A | ||
| XM_006712331.3:c.1510-19136A>T | XP_006712394.1:n.1510-19136A>T | |
| XM_006712332.3:c.1509+20916A>T | XP_006712395.1:n.1509+20916A>T | |
| XM_006712333.3:c.1391-19136A>T | XP_006712396.1:n.1391-19136A>T | |
| XM_006712334.3:c.1391-19136A>T | XP_006712397.1:n.1391-19136A>T | |
| XM_006712335.4:c.1390+21035A>T | XP_006712398.1:n.1390+21035A>T | |
| XM_006712336.3:c.1163-27203A>T | XP_006712399.1:n.1163-27203A>T | |
| XM_011510736.2:c.1163-19136A>T | XP_011509038.1:n.1163-19136A>T | |
| XM_024452728.1:c.1506+20916A>T | XP_024308496.1:n.1506+20916A>T | |
| NM_001168221.2:c.1507-19136A>T MANE Select | NP_001161693.1:n.1507-19136A>T | |
| NM_001168216.2:c.1163-19136A>T | NP_001161688.1:n.1163-19136A>T | |
| NM_152525.6:c.1507-19136A>T | NP_689738.3:n.1507-19136A>T |