Linked Data
dbSNP Id:
rs774040328
ExAC:
15:28386630 A / G
gnomAD v2:
15-28386630-A-G
gnomAD v4:
15-28141484-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28141484A>G , CM000677.2:g.28141484A>G | GRCh38 |
| NC_000015.9:g.28386630A>G , CM000677.1:g.28386630A>G | GRCh37 |
| NC_000015.8:g.26060225A>G | NCBI36 |
| NG_016355.1:g.185666T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261609.13:c.11963T>C MANE Select | ENSP00000261609.8:p.Val3988Ala | |
| ENST00000650509.1:c.3674T>C | ENSP00000496936.1:p.Val1225Ala | |
| ENST00000261609.11:c.11963T>C | ENSP00000261609.7:p.Val3988Ala | |
| NM_004667.5:c.11963T>C | NP_004658.3:p.Val3988Ala | |
| XM_005268276.3:c.11849T>C | XP_005268333.1:p.Val3950Ala | |
| XM_005268277.3:c.11849T>C | XP_005268334.1:p.Val3950Ala | |
| XM_006720726.2:c.11948T>C | XP_006720789.1:p.Val3983Ala | |
| XM_006720727.2:c.11705T>C | XP_006720790.1:p.Val3902Ala | |
| XM_011522131.1:c.11480T>C | XP_011520433.1:p.Val3827Ala | |
| XM_011522132.1:c.9479T>C | XP_011520434.1:p.Val3160Ala | |
| XM_011522133.1:c.8708T>C | XP_011520435.1:p.Val2903Ala | |
| XM_011522134.1:c.6080T>C | XP_011520436.1:p.Val2027Ala | |
| XM_005268276.5:c.11849T>C | XP_005268333.1:p.Val3950Ala | |
| XM_006720726.3:c.11948T>C | XP_006720789.1:p.Val3983Ala | |
| XM_006720727.3:c.11705T>C | XP_006720790.1:p.Val3902Ala | |
| XM_017022695.1:c.11849T>C | XP_016878184.1:p.Val3950Ala | |
| XM_017022696.1:c.11849T>C | XP_016878185.1:p.Val3950Ala | |
| XM_017022697.1:c.5129T>C | XP_016878186.1:p.Val1710Ala | |
| XM_017022698.1:c.5129T>C | XP_016878187.1:p.Val1710Ala | |
| NM_004667.6:c.11963T>C MANE Select | NP_004658.3:p.Val3988Ala |