Linked Data
ClinVar Variation Id:
1077516
ClinVar RCV Id:
RCV001392096
dbSNP Id:
rs1215516234
gnomAD v2:
2-44171029-A-T
gnomAD v4:
2-43943890-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43943890A>T , CM000664.2:g.43943890A>T | GRCh38 |
| NC_000002.11:g.44171029A>T , CM000664.1:g.44171029A>T | GRCh37 |
| NC_000002.10:g.44024533A>T | NCBI36 |
| NG_008247.1:g.57116T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409659.6:c.2301T>A | ENSP00000386562.2:p.Ala767= | |
| ENST00000447246.2:c.2301T>A | ENSP00000403637.2:p.Ala767= | |
| ENST00000681961.1:n.2321T>A | ||
| ENST00000682104.1:c.2175T>A | ENSP00000507716.1:p.Ala725= | |
| ENST00000682303.1:c.*2087T>A | ENSP00000508325.1:n.*2087T>A | |
| ENST00000682308.1:c.2301T>A | ENSP00000507056.1:p.Ala767= | |
| ENST00000682480.1:c.2301T>A | ENSP00000508344.1:p.Ala767= | |
| ENST00000682546.1:c.2298T>A | ENSP00000508188.1:p.Ala766= | |
| ENST00000682585.1:c.2301T>A | ENSP00000506885.1:p.Ala767= | |
| ENST00000682595.1:n.2883T>A | ||
| ENST00000682607.1:c.719T>A | ||
| ENST00000682779.1:c.2292T>A | ENSP00000507947.1:p.Ala764= | |
| ENST00000682845.1:n.1403T>A | ||
| ENST00000682885.1:c.2256T>A | ENSP00000508036.1:p.Ala752= | |
| ENST00000682933.1:n.2375T>A | ||
| ENST00000683072.1:n.2883T>A | ||
| ENST00000683125.1:c.2301T>A | ENSP00000507939.1:p.Ala767= | |
| ENST00000683213.1:c.2304T>A | ENSP00000507751.1:p.Ala768= | |
| ENST00000683220.1:c.2331T>A | ENSP00000507151.1:p.Ala777= | |
| ENST00000683329.1:n.3104T>A | ||
| ENST00000683346.1:c.*2176T>A | ENSP00000507458.1:n.*2176T>A | |
| ENST00000683459.1:n.2888T>A | ||
| ENST00000683590.1:c.2301T>A | ENSP00000506820.1:p.Ala767= | |
| ENST00000683623.1:c.2297-89T>A | ENSP00000507702.1:n.2297-89T>A | |
| ENST00000683645.1:n.2852T>A | ||
| ENST00000683694.1:n.1052T>A | ||
| ENST00000683796.1:c.*2173T>A | ENSP00000508221.1:n.*2173T>A | |
| ENST00000683802.1:n.5226T>A | ||
| ENST00000683833.1:c.2292T>A | ENSP00000506852.1:p.Ala764= | |
| ENST00000683989.1:c.2301T>A | ENSP00000507510.1:p.Ala767= | |
| ENST00000683994.1:c.2301T>A | ENSP00000507181.1:p.Ala767= | |
| ENST00000684290.1:c.2215T>A | ENSP00000507243.1:p.Tyr739Asn | |
| ENST00000684306.1:c.*2214T>A | ENSP00000508384.1:n.*2214T>A | |
| ENST00000684341.1:n.2321T>A | ||
| ENST00000684383.1:c.*1939T>A | ENSP00000506863.1:n.*1939T>A | |
| ENST00000684397.1:c.5T>A | ||
| ENST00000684619.1:c.*2173T>A | ENSP00000508088.1:n.*2173T>A | |
| ENST00000684743.1:n.3332T>A | ||
| ENST00000260665.12:c.2301T>A MANE Select | ENSP00000260665.7:p.Ala767= | |
| ENST00000260665.11:c.2301T>A | ENSP00000260665.7:p.Ala767= | |
| NM_133259.3:c.2301T>A | NP_573566.2:p.Ala767= | |
| XM_006711915.2:c.2223T>A | XP_006711978.1:p.Ala741= | |
| XM_006711916.2:c.2301T>A | XP_006711979.1:p.Ala767= | |
| XM_011532473.1:c.2301T>A | XP_011530775.1:p.Ala767= | |
| XM_011532474.1:c.2301T>A | XP_011530776.1:p.Ala767= | |
| XM_006711916.3:c.2301T>A | XP_006711979.1:p.Ala767= | |
| XM_017003117.1:c.2223T>A | XP_016858606.1:p.Ala741= | |
| XR_002958896.1:n.2343T>A | ||
| NM_133259.4:c.2301T>A MANE Select | NP_573566.2:p.Ala767= |