Linked Data
dbSNP Id:
rs777648530
ExAC:
X:105277607 T / A
gnomAD v2:
X-105277607-T-A
gnomAD v4:
X-106033616-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106033616T>A , CM000685.2:g.106033616T>A | GRCh38 |
| NC_000023.10:g.105277607T>A , CM000685.1:g.105277607T>A | GRCh37 |
| NC_000023.9:g.105164263T>A | NCBI36 |
| NG_021252.1:g.10112A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.1132A>T MANE Select | ENSP00000361644.1:p.Asn378Tyr | |
| ENST00000327674.8:c.1132A>T | ENSP00000329374.4:p.Asn378Tyr | |
| ENST00000372563.1:c.1132A>T | ENSP00000361644.1:p.Asn378Tyr | |
| NM_000354.5:c.1132A>T | NP_000345.2:p.Asn378Tyr | |
| XM_005262180.3:c.*77A>T | XP_005262237.1:n.*77A>T | |
| XM_006724683.1:c.1162A>T | XP_006724746.1:p.Asn388Tyr | |
| XM_005262180.4:c.*77A>T | XP_005262237.1:n.*77A>T | |
| XM_006724683.2:c.1162A>T | XP_006724746.1:p.Asn388Tyr | |
| NM_000354.6:c.1132A>T MANE Select | NP_000345.2:p.Asn378Tyr |