Linked Data
dbSNP Id:
rs1190479163
gnomAD v2:
2-103068492-T-G
gnomAD v3:
2-102452032-T-G
gnomAD v4:
2-102452032-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102452032T>G , CM000664.2:g.102452032T>G | GRCh38 |
| NC_000002.11:g.103068492T>G , CM000664.1:g.103068492T>G | GRCh37 |
| NC_000002.10:g.102434924T>G | NCBI36 |
| NG_011481.1:g.38239T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687160.1:c.1651T>G MANE Select | ENSP00000510345.1:p.Phe551Val | |
| ENST00000264260.6:c.1651T>G | ENSP00000264260.2:p.Phe551Val | |
| ENST00000409369.1:c.1225T>G | ENSP00000387201.1:p.Phe409Val | |
| NM_003853.3:c.1651T>G | NP_003844.1:p.Phe551Val | |
| XM_011512087.1:c.1225T>G | XP_011510389.1:p.Phe409Val | |
| XM_011512088.1:c.1225T>G | XP_011510390.1:p.Phe409Val | |
| XM_011512087.2:c.1225T>G | XP_011510389.1:p.Phe409Val | |
| XM_011512088.2:c.1225T>G | XP_011510390.1:p.Phe409Val | |
| XM_017005173.1:c.793T>G | XP_016860662.1:p.Phe265Val | |
| XM_024453197.1:c.1651T>G | XP_024308965.1:p.Phe551Val | |
| XM_024453198.1:c.1651T>G | XP_024308966.1:p.Phe551Val | |
| XM_024453199.1:c.1651T>G | XP_024308967.1:p.Phe551Val | |
| XM_024453200.1:c.1651T>G | XP_024308968.1:p.Phe551Val | |
| XM_024453201.1:c.1651T>G | XP_024308969.1:p.Phe551Val | |
| NM_001393486.1:c.1651T>G | NP_001380415.1:p.Phe551Val | |
| NM_001393487.1:c.1651T>G MANE Select | NP_001380416.1:p.Phe551Val | |
| NM_001393488.1:c.1225T>G | NP_001380417.1:p.Phe409Val | |
| NM_001393489.1:c.1225T>G | NP_001380418.1:p.Phe409Val | |
| NM_003853.4:c.1651T>G | NP_003844.1:p.Phe551Val |