Linked Data
ClinVar Variation Id:
446268
ClinVar RCV Id:
RCV000515513
dbSNP Id:
rs537053537
gnomAD v2:
19-40880431-T-C
gnomAD v3:
19-40374524-T-C
gnomAD v4:
19-40374524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40374524T>C , CM000681.2:g.40374524T>C | GRCh38 |
| NC_000019.9:g.40880431T>C , CM000681.1:g.40880431T>C | GRCh37 |
| NC_000019.8:g.45572271T>C | NCBI36 |
| NG_034098.1:g.31100T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700616.1:c.923T>C | ENSP00000515107.1:p.Leu308Pro | |
| ENST00000700617.1:c.923T>C | ENSP00000515108.1:p.Leu308Pro | |
| ENST00000700618.1:c.923T>C | ENSP00000515109.1:p.Leu308Pro | |
| ENST00000700619.1:c.923T>C | ENSP00000515110.1:p.Leu308Pro | |
| ENST00000700620.1:c.923T>C | ENSP00000515111.1:p.Leu308Pro | |
| ENST00000700621.1:c.923T>C | ENSP00000515112.1:p.Leu308Pro | |
| ENST00000700623.1:c.923T>C | ENSP00000515113.1:p.Leu308Pro | |
| ENST00000700624.1:c.857T>C | ENSP00000515114.2:p.Leu286Pro | |
| ENST00000700625.1:c.923T>C | ENSP00000515115.1:p.Leu308Pro | |
| ENST00000700626.1:c.923T>C | ENSP00000515116.1:p.Leu308Pro | |
| ENST00000700628.1:c.923T>C | ENSP00000515117.1:p.Leu308Pro | |
| ENST00000700630.1:c.923T>C | ENSP00000515118.1:p.Leu308Pro | |
| ENST00000700631.1:c.923T>C | ENSP00000515119.1:p.Leu308Pro | |
| ENST00000700632.1:c.923T>C | ENSP00000515120.1:p.Leu308Pro | |
| ENST00000700633.1:c.923T>C | ENSP00000515121.1:p.Leu308Pro | |
| ENST00000700634.1:c.923T>C | ENSP00000515122.1:p.Leu308Pro | |
| ENST00000700636.1:n.1109T>C | ||
| ENST00000700637.1:c.923T>C | ENSP00000515123.1:p.Leu308Pro | |
| ENST00000700638.1:c.845T>C | ENSP00000515124.1:p.Leu282Pro | |
| ENST00000700639.1:n.413T>C | ||
| ENST00000409735.9:c.923T>C MANE Select | ENSP00000386938.3:p.Leu308Pro | |
| ENST00000356508.9:c.923T>C | ENSP00000348901.5:p.Leu308Pro | |
| ENST00000409281.5:c.923T>C | ENSP00000387022.1:p.Leu308Pro | |
| ENST00000409419.5:c.923T>C | ENSP00000386293.1:p.Leu308Pro | |
| ENST00000409587.5:c.923T>C | ENSP00000387050.1:p.Leu308Pro | |
| ENST00000409735.8:c.923T>C | ENSP00000386938.3:p.Leu308Pro | |
| ENST00000475983.1:n.441T>C | ||
| NM_001031696.3:c.923T>C | NP_001026866.1:p.Leu308Pro | |
| NM_001291311.1:c.923T>C | NP_001278240.1:p.Leu308Pro | |
| NM_012268.3:c.923T>C | NP_036400.2:p.Leu308Pro | |
| XM_005258704.1:c.923T>C | XP_005258761.1:p.Leu308Pro | |
| XM_005258705.2:c.923T>C | XP_005258762.1:p.Leu308Pro | |
| XM_005258707.3:c.923T>C | XP_005258764.1:p.Leu308Pro | |
| XM_005258708.2:c.923T>C | XP_005258765.1:p.Leu308Pro | |
| XM_005258709.3:c.923T>C | XP_005258766.1:p.Leu308Pro | |
| XM_005258710.3:c.923T>C | XP_005258767.1:p.Leu308Pro | |
| XM_006723122.1:c.923T>C | XP_006723185.1:p.Leu308Pro | |
| XM_011526692.1:c.923T>C | XP_011524994.1:p.Leu308Pro | |
| XM_011526693.1:c.923T>C | XP_011524995.1:p.Leu308Pro | |
| XM_005258704.2:c.923T>C | XP_005258761.1:p.Leu308Pro | |
| XM_005258707.4:c.923T>C | XP_005258764.1:p.Leu308Pro | |
| XM_005258708.4:c.923T>C | XP_005258765.1:p.Leu308Pro | |
| XM_005258709.4:c.923T>C | XP_005258766.1:p.Leu308Pro | |
| XM_005258710.5:c.923T>C | XP_005258767.1:p.Leu308Pro | |
| XM_017026546.1:c.923T>C | XP_016882035.1:p.Leu308Pro | |
| XM_017026548.1:c.923T>C | XP_016882037.1:p.Leu308Pro | |
| XM_017026549.1:c.923T>C | XP_016882038.1:p.Leu308Pro | |
| XM_024451438.1:c.923T>C | XP_024307206.1:p.Leu308Pro | |
| NM_012268.4:c.923T>C MANE Select | NP_036400.2:p.Leu308Pro | |
| NM_001031696.4:c.923T>C | NP_001026866.1:p.Leu308Pro | |
| NM_001291311.2:c.923T>C | NP_001278240.1:p.Leu308Pro |