Linked Data
dbSNP Id:
rs750649229
ExAC:
16:3808894 A / G
gnomAD v2:
16-3808894-A-G
gnomAD v4:
16-3758893-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3758893A>G , CM000678.2:g.3758893A>G | GRCh38 |
| NC_000016.9:g.3808894A>G , CM000678.1:g.3808894A>G | GRCh37 |
| NC_000016.8:g.3748895A>G | NCBI36 |
| NG_009873.1:g.126228T>C | |
| NG_009873.2:g.126821T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.3330T>C MANE Select | ENSP00000262367.5:p.Pro1110= | |
| ENST00000262367.9:c.3330T>C | ENSP00000262367.5:p.Pro1110= | |
| ENST00000382070.7:c.3216T>C | ENSP00000371502.3:p.Pro1072= | |
| ENST00000570939.2:c.1935T>C | ENSP00000461002.2:p.Pro645= | |
| NM_001079846.1:c.3216T>C | NP_001073315.1:p.Pro1072= | |
| NM_004380.2:c.3330T>C | NP_004371.2:p.Pro1110= | |
| XM_005255124.3:c.3285T>C | XP_005255181.1:p.Pro1095= | |
| XM_005255125.3:c.2913T>C | XP_005255182.1:p.Pro971= | |
| XM_006720848.2:c.3330T>C | XP_006720911.1:p.Pro1110= | |
| XM_011522380.1:c.3276T>C | XP_011520682.1:p.Pro1092= | |
| XM_011522381.1:c.2577T>C | XP_011520683.1:p.Pro859= | |
| XM_011522382.1:c.3330T>C | XP_011520684.1:p.Pro1110= | |
| XM_005255124.4:c.3285T>C | XP_005255181.1:p.Pro1095= | |
| XM_005255125.4:c.2913T>C | XP_005255182.1:p.Pro971= | |
| XM_006720848.3:c.3330T>C | XP_006720911.1:p.Pro1110= | |
| XM_011522381.2:c.2577T>C | XP_011520683.1:p.Pro859= | |
| XM_011522382.3:c.3330T>C | XP_011520684.1:p.Pro1110= | |
| XM_017022944.1:c.3324T>C | XP_016878433.1:p.Pro1108= | |
| NM_004380.3:c.3330T>C MANE Select | NP_004371.2:p.Pro1110= |