Linked Data
dbSNP Id:
rs214252
ExAC:
16:347184 A / G
gnomAD v2:
16-347184-A-G
gnomAD v3:
16-297184-A-G
gnomAD v4:
16-297184-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.297184A>G , CM000678.2:g.297184A>G | GRCh38 |
| NC_000016.9:g.347184A>G , CM000678.1:g.347184A>G | GRCh37 |
| NC_000016.8:g.287185A>G | NCBI36 |
| NG_012267.1:g.60281T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262320.8:c.1827T>C MANE Select | ENSP00000262320.3:p.Ala609= | |
| ENST00000262320.7:c.1827T>C | ENSP00000262320.3:p.Ala609= | |
| ENST00000354866.7:c.1827T>C | ENSP00000346935.3:p.Ala609= | |
| ENST00000461023.5:n.1124T>C | ||
| NM_003502.3:c.1827T>C | NP_003493.1:p.Ala609= | |
| NM_181050.2:c.1827T>C | NP_851393.1:p.Ala609= | |
| XM_011522682.1:c.1989T>C | XP_011520984.1:p.Ala663= | |
| XM_011522683.1:c.1989T>C | XP_011520985.1:p.Ala663= | |
| XM_011522684.1:c.1842T>C | XP_011520986.1:p.Ala614= | |
| XM_011522685.1:c.1011T>C | XP_011520987.1:p.Ala337= | |
| XM_011522686.1:c.984T>C | XP_011520988.1:p.Ala328= | |
| XM_011522687.1:c.1011T>C | XP_011520989.1:p.Ala337= | |
| XM_011522688.1:c.777T>C | XP_011520990.1:p.Ala259= | |
| NR_134879.1:n.2119T>C | ||
| XM_011522682.2:c.1989T>C | XP_011520984.1:p.Ala663= | |
| XM_011522683.2:c.1989T>C | XP_011520985.1:p.Ala663= | |
| XM_011522684.2:c.1842T>C | XP_011520986.1:p.Ala614= | |
| XM_017023743.1:c.1974T>C | XP_016879232.1:p.Ala658= | |
| XM_017023744.1:c.1974T>C | XP_016879233.1:p.Ala658= | |
| XM_017023745.2:c.987T>C | XP_016879234.1:p.Ala329= | |
| XM_017023746.1:c.777T>C | XP_016879235.1:p.Ala259= | |
| NM_003502.4:c.1827T>C MANE Select | NP_003493.1:p.Ala609= | |
| NM_181050.3:c.1827T>C | NP_851393.1:p.Ala609= | |
| NR_134879.2:n.2166T>C |