Linked Data
ClinVar Variation Id:
205558
ClinVar RCV Id:
RCV000187540
dbSNP Id:
rs774337016
ExAC:
5:161495018 A / T
gnomAD v2:
5-161495018-A-T
gnomAD v4:
5-162068012-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162068012A>T , CM000667.2:g.162068012A>T | GRCh38 |
| NC_000005.9:g.161495018A>T , CM000667.1:g.161495018A>T | GRCh37 |
| NC_000005.8:g.161427596A>T | NCBI36 |
| NG_009290.1:g.5371A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361925.9:c.13A>T | ENSP00000354651.5:p.Asn5Tyr | |
| ENST00000638552.1:c.-179+6103A>T | ENSP00000491763.1:n.-179+6103A>T | |
| ENST00000638660.1:c.-179+6103A>T | ENSP00000492869.1:n.-179+6103A>T | |
| ENST00000638772.1:c.13A>T | ENSP00000491557.1:p.Asn5Tyr | |
| ENST00000638782.1:n.75A>T | ||
| ENST00000639046.1:c.23-35877A>T | ENSP00000492659.1:n.23-35877A>T | |
| ENST00000639111.2:c.13A>T | ENSP00000492125.2:p.Asn5Tyr | |
| ENST00000639213.2:c.13A>T MANE Select | ENSP00000491909.2:p.Asn5Tyr | |
| ENST00000639384.1:c.13A>T | ENSP00000491240.1:p.Asn5Tyr | |
| ENST00000639424.1:c.13A>T | ENSP00000491245.1:p.Asn5Tyr | |
| ENST00000639549.1:n.237A>T | ||
| ENST00000639683.1:c.-3-51A>T | ENSP00000492581.1:n.-3-51A>T | |
| ENST00000639975.1:c.-3-51A>T | ENSP00000492096.1:n.-3-51A>T | |
| ENST00000640574.1:c.-179+6103A>T | ENSP00000491582.1:n.-179+6103A>T | |
| ENST00000640757.1:c.114-25816A>T | ENSP00000492329.1:n.114-25816A>T | |
| ENST00000640985.1:c.20+371A>T | ENSP00000492293.1:n.20+371A>T | |
| ENST00000641017.1:c.13A>T | ENSP00000493461.1:p.Asn5Tyr | |
| ENST00000356592.7:c.13A>T | ENSP00000349000.3:p.Asn5Tyr | |
| ENST00000361925.8:c.13A>T | ENSP00000354651.4:p.Asn5Tyr | |
| ENST00000414552.6:c.13A>T | ENSP00000410732.2:p.Asn5Tyr | |
| ENST00000522990.5:c.13A>T | ENSP00000430732.1:p.Asn5Tyr | |
| ENST00000523372.1:c.13A>T | ENSP00000430124.1:p.Asn5Tyr | |
| NM_000816.3:c.13A>T | NP_000807.2:p.Asn5Tyr | |
| NM_198903.2:c.13A>T | NP_944493.2:p.Asn5Tyr | |
| NM_198904.2:c.13A>T | NP_944494.1:p.Asn5Tyr | |
| NM_001375339.1:c.13A>T | NP_001362268.1:p.Asn5Tyr | |
| NM_001375340.1:c.13A>T | NP_001362269.1:p.Asn5Tyr | |
| NM_001375341.1:c.13A>T | NP_001362270.1:p.Asn5Tyr | |
| NM_001375342.1:c.13A>T | NP_001362271.1:p.Asn5Tyr | |
| NM_001375343.1:c.13A>T | NP_001362272.1:p.Asn5Tyr | |
| NM_001375344.1:c.13A>T | NP_001362273.1:p.Asn5Tyr | |
| NM_001375345.1:c.-3-51A>T | NP_001362274.1:n.-3-51A>T | |
| NM_001375346.1:c.-3-51A>T | NP_001362275.1:n.-3-51A>T | |
| NM_001375347.1:c.20+371A>T | NP_001362276.1:n.20+371A>T | |
| NM_001375348.1:c.-346A>T | NP_001362277.1:n.-346A>T | |
| NM_001375349.1:c.-394A>T | NP_001362278.1:n.-394A>T | |
| NM_001375350.1:c.-346A>T | NP_001362279.1:n.-346A>T | |
| NM_198904.3:c.13A>T | NP_944494.1:p.Asn5Tyr | |
| NM_198904.4:c.13A>T MANE Select | NP_944494.1:p.Asn5Tyr |