Linked Data
dbSNP Id:
rs763049776
ExAC:
16:23428417 A / G
gnomAD v2:
16-23428417-A-G
gnomAD v4:
16-23417096-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417096A>G , CM000678.2:g.23417096A>G | GRCh38 |
| NC_000016.9:g.23428417A>G , CM000678.1:g.23428417A>G | GRCh37 |
| NC_000016.8:g.23335918A>G | NCBI36 |
| NG_021287.1:g.41096T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1163T>C MANE Select | ENSP00000305442.5:p.Val388Ala | |
| ENST00000307149.9:c.1163T>C | ENSP00000305442.5:p.Val388Ala | |
| ENST00000567821.1:n.198T>C | ||
| NM_153603.3:c.1163T>C | NP_705831.1:p.Val388Ala | |
| XR_429680.1:n.1379T>C | ||
| XM_017023870.1:c.968T>C | XP_016879359.1:p.Val323Ala | |
| XR_002957852.1:n.1384T>C | ||
| XR_429680.2:n.1384T>C | ||
| NM_153603.4:c.1163T>C MANE Select | NP_705831.1:p.Val388Ala |