Linked Data
ClinVar Variation Id:
1245
ClinVar RCV Id:
RCV000001304
RCV000001305
RCV000114634
RCV000121742
RCV000129158
RCV000212830
RCV001355428
RCV004528063
dbSNP Id:
rs118203998
ExAC:
16:23614792 G / C
gnomAD v2:
16-23614792-G-C
gnomAD v3:
16-23603471-G-C
gnomAD v4:
16-23603471-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603471G>C , CM000678.2:g.23603471G>C | GRCh38 |
| NC_000016.9:g.23614792G>C , CM000678.1:g.23614792G>C | GRCh37 |
| NC_000016.8:g.23522293G>C | NCBI36 |
| NG_007406.1:g.42887C>G , LRG_308:g.42887C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3555C>G | ENSP00000460666.3:p.Tyr1185Ter | |
| ENST00000565038.2:c.*1034C>G | ENSP00000459882.2:n.*1034C>G | |
| ENST00000566069.6:c.*184C>G | ENSP00000459237.2:n.*184C>G | |
| ENST00000697377.2:c.3393C>G | ENSP00000513286.2:p.Tyr1131Ter | |
| ENST00000697379.2:c.3555C>G | ENSP00000513287.2:p.Tyr1185Ter | |
| ENST00000561514.2:c.2664C>G | ENSP00000460666.2:p.Tyr888Ter | |
| ENST00000697374.1:c.2664C>G | ENSP00000513284.1:p.Tyr888Ter | |
| ENST00000697375.1:n.4896C>G | ||
| ENST00000697376.1:c.*184C>G | ENSP00000513285.1:n.*184C>G | |
| ENST00000697377.1:c.2502C>G | ENSP00000513286.1:p.Tyr834Ter | |
| ENST00000697378.1:n.4069C>G | ||
| ENST00000697379.1:c.2664C>G | ENSP00000513287.1:p.Tyr888Ter | |
| ENST00000697380.1:n.2753C>G | ||
| ENST00000697381.1:n.2244C>G | ||
| ENST00000697382.1:c.*326C>G | ENSP00000513288.1:n.*326C>G | |
| ENST00000697383.1:c.1083C>G | ENSP00000513289.1:p.Tyr361Ter | |
| ENST00000261584.9:c.3549C>G MANE Select | ENSP00000261584.4:p.Tyr1183Ter | |
| ENST00000261584.8:c.3549C>G | ENSP00000261584.4:p.Tyr1183Ter | |
| ENST00000566069.5:c.315C>G | ||
| ENST00000568219.5:c.2664C>G | ENSP00000454703.2:p.Tyr888Ter | |
| NM_024675.3:c.3549C>G , LRG_308t1:c.3549C>G | NP_078951.2:p.Tyr1183Ter | |
| XM_011545946.1:c.3555C>G | XP_011544248.1:p.Tyr1185Ter | |
| XM_011545947.1:c.*184C>G | XP_011544249.1:n.*184C>G | |
| XM_011545948.1:c.2664C>G | XP_011544250.1:p.Tyr888Ter | |
| XR_950851.1:n.4257C>G | ||
| XM_011545946.2:c.3555C>G | XP_011544248.1:p.Tyr1185Ter | |
| XM_011545947.2:c.*184C>G | XP_011544249.1:n.*184C>G | |
| XM_011545948.2:c.2664C>G | XP_011544250.1:p.Tyr888Ter | |
| XM_017023671.1:c.3318C>G | XP_016879160.1:p.Tyr1106Ter | |
| XM_017023672.2:c.3312C>G | XP_016879161.1:p.Tyr1104Ter | |
| XM_017023673.2:c.*184C>G | XP_016879162.1:n.*184C>G | |
| NM_024675.4:c.3549C>G MANE Select | NP_078951.2:p.Tyr1183Ter |