Linked Data
dbSNP Id:
rs917998
gnomAD v2:
2-103068156-C-T
gnomAD v3:
2-102451696-C-T
gnomAD v4:
2-102451696-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102451696C>T , CM000664.2:g.102451696C>T | GRCh38 |
| NC_000002.11:g.103068156C>T , CM000664.1:g.103068156C>T | GRCh37 |
| NC_000002.10:g.102434588C>T | NCBI36 |
| NG_011481.1:g.37903C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687160.1:c.1385-70C>T MANE Select | ENSP00000510345.1:n.1385-70C>T | |
| ENST00000264260.6:c.1385-70C>T | ENSP00000264260.2:n.1385-70C>T | |
| ENST00000409369.1:c.959-70C>T | ENSP00000387201.1:n.959-70C>T | |
| NM_003853.3:c.1385-70C>T | NP_003844.1:n.1385-70C>T | |
| XM_011512087.1:c.959-70C>T | XP_011510389.1:n.959-70C>T | |
| XM_011512088.1:c.959-70C>T | XP_011510390.1:n.959-70C>T | |
| XM_011512087.2:c.959-70C>T | XP_011510389.1:n.959-70C>T | |
| XM_011512088.2:c.959-70C>T | XP_011510390.1:n.959-70C>T | |
| XM_017005173.1:c.527-70C>T | XP_016860662.1:n.527-70C>T | |
| XM_024453197.1:c.1385-70C>T | XP_024308965.1:n.1385-70C>T | |
| XM_024453198.1:c.1385-70C>T | XP_024308966.1:n.1385-70C>T | |
| XM_024453199.1:c.1385-70C>T | XP_024308967.1:n.1385-70C>T | |
| XM_024453200.1:c.1385-70C>T | XP_024308968.1:n.1385-70C>T | |
| XM_024453201.1:c.1385-70C>T | XP_024308969.1:n.1385-70C>T | |
| NM_001393486.1:c.1385-70C>T | NP_001380415.1:n.1385-70C>T | |
| NM_001393487.1:c.1385-70C>T MANE Select | NP_001380416.1:n.1385-70C>T | |
| NM_001393488.1:c.959-70C>T | NP_001380417.1:n.959-70C>T | |
| NM_001393489.1:c.959-70C>T | NP_001380418.1:n.959-70C>T | |
| NM_003853.4:c.1385-70C>T | NP_003844.1:n.1385-70C>T |