Linked Data
dbSNP Id:
rs943222586
gnomAD v2:
2-169041265-T-A
gnomAD v3:
2-168184755-T-A
gnomAD v4:
2-168184755-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168184755T>A , CM000664.2:g.168184755T>A | GRCh38 |
| NC_000002.11:g.169041265T>A , CM000664.1:g.169041265T>A | GRCh37 |
| NC_000002.10:g.168749511T>A | NCBI36 |
| NG_052783.1:g.67841A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697205.1:c.209-2665A>T | ENSP00000513185.1:n.209-2665A>T | |
| ENST00000355999.5:c.209-2665A>T MANE Select | ENSP00000348278.4:n.209-2665A>T | |
| ENST00000355999.4:c.209-2665A>T | ENSP00000348278.4:n.209-2665A>T | |
| NM_013233.2:c.209-2665A>T | NP_037365.2:n.209-2665A>T | |
| XM_005246465.2:c.209-2665A>T | XP_005246522.1:n.209-2665A>T | |
| XM_011510966.1:c.209-2665A>T | XP_011509268.1:n.209-2665A>T | |
| XM_011510967.1:c.209-2665A>T | XP_011509269.1:n.209-2665A>T | |
| XM_011510968.1:c.209-2665A>T | XP_011509270.1:n.209-2665A>T | |
| XM_017003813.2:c.209-2665A>T | XP_016859302.1:n.209-2665A>T | |
| XM_017003814.2:c.209-2665A>T | XP_016859303.1:n.209-2665A>T | |
| XM_017003815.2:c.-98-2665A>T | XP_016859304.1:n.-98-2665A>T | |
| XM_017003816.2:c.209-2665A>T | XP_016859305.1:n.209-2665A>T | |
| NM_013233.3:c.209-2665A>T MANE Select | NP_037365.2:n.209-2665A>T |