Linked Data
ClinVar Variation Id:
43819
ClinVar RCV Id:
RCV000036783
RCV000249527
RCV000302537
RCV000359593
RCV000771031
RCV001711114
RCV001841576
RCV003996297
dbSNP Id:
rs707189
ExAC:
1:237801770 T / C
gnomAD v2:
1-237801770-T-C
gnomAD v3:
1-237638470-T-C
gnomAD v4:
1-237638470-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237638470T>C , CM000663.2:g.237638470T>C | GRCh38 |
| NC_000001.10:g.237801770T>C , CM000663.1:g.237801770T>C | GRCh37 |
| NC_000001.9:g.235868393T>C | NCBI36 |
| NG_008799.2:g.601069T>C | |
| NG_008799.3:g.601287T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.6906T>C | ENSP00000499659.2:p.Leu2302= | |
| ENST00000659194.3:c.6906T>C | ENSP00000499653.3:p.Leu2302= | |
| ENST00000660292.2:c.6906T>C | ENSP00000499787.2:p.Leu2302= | |
| ENST00000366574.7:c.6906T>C MANE Select | ENSP00000355533.2:p.Leu2302= | |
| ENST00000360064.7:c.6858T>C | ENSP00000353174.7:p.Leu2286= | |
| ENST00000366574.6:c.6906T>C | ENSP00000355533.2:p.Leu2302= | |
| NM_001035.2:c.6906T>C | NP_001026.2:p.Leu2302= | |
| XM_006711802.2:c.6936T>C | XP_006711865.1:p.Leu2312= | |
| XM_006711803.2:c.6933T>C | XP_006711866.1:p.Leu2311= | |
| XM_006711804.2:c.6936T>C | XP_006711867.1:p.Leu2312= | |
| XM_006711805.2:c.6906T>C | XP_006711868.1:p.Leu2302= | |
| XM_006711806.2:c.6936T>C | XP_006711869.1:p.Leu2312= | |
| XM_006711807.2:c.6936T>C | XP_006711870.1:p.Leu2312= | |
| XM_006711808.2:c.6936T>C | XP_006711871.1:p.Leu2312= | |
| XM_006711809.2:c.6936T>C | XP_006711872.1:p.Leu2312= | |
| XM_006711810.2:c.6903T>C | XP_006711873.1:p.Leu2301= | |
| XR_949152.1:n.7217T>C | ||
| XM_006711802.3:c.6936T>C | XP_006711865.1:p.Leu2312= | |
| XM_006711803.3:c.6933T>C | XP_006711866.1:p.Leu2311= | |
| XM_006711804.3:c.6936T>C | XP_006711867.1:p.Leu2312= | |
| XM_006711805.3:c.6906T>C | XP_006711868.1:p.Leu2302= | |
| XM_006711806.3:c.6936T>C | XP_006711869.1:p.Leu2312= | |
| XM_006711807.3:c.6936T>C | XP_006711870.1:p.Leu2312= | |
| XM_006711808.3:c.6936T>C | XP_006711871.1:p.Leu2312= | |
| XM_006711810.3:c.6903T>C | XP_006711873.1:p.Leu2301= | |
| XM_017002028.1:c.6915T>C | XP_016857517.1:p.Leu2305= | |
| XR_002957299.1:n.7250T>C | ||
| XR_949152.2:n.7250T>C | ||
| NM_001035.3:c.6906T>C MANE Select | NP_001026.2:p.Leu2302= |