Linked Data
ClinVar Variation Id:
2036967
ClinVar RCV Id:
RCV002899542
dbSNP Id:
rs747695084
ExAC:
12:116434984 T / G
gnomAD v2:
12-116434984-T-G
gnomAD v3:
12-115997179-T-G
gnomAD v4:
12-115997179-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997179T>G , CM000674.2:g.115997179T>G | GRCh38 |
| NC_000012.11:g.116434984T>G , CM000674.1:g.116434984T>G | GRCh37 |
| NC_000012.10:g.114919367T>G | NCBI36 |
| NG_023366.1:g.285008A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2621A>C MANE Select | ENSP00000281928.3:p.His874Pro | |
| ENST00000548743.2:c.2591A>C | ENSP00000448553.2:p.His864Pro | |
| ENST00000549786.2:c.2049A>C | ||
| ENST00000647927.1:n.2994A>C | ||
| ENST00000648173.1:n.1416A>C | ||
| ENST00000648379.1:n.989A>C | ||
| ENST00000648737.1:n.2385A>C | ||
| ENST00000648916.1:n.632A>C | ||
| ENST00000649607.1:c.805A>C | ||
| ENST00000650226.1:c.2621A>C | ENSP00000496981.1:p.His874Pro | |
| ENST00000281928.7:c.2621A>C | ENSP00000281928.3:p.His874Pro | |
| NM_015335.4:c.2621A>C | NP_056150.1:p.His874Pro | |
| XM_011538080.1:c.2621A>C | XP_011536382.1:p.His874Pro | |
| XM_011538081.1:c.2618A>C | XP_011536383.1:p.His873Pro | |
| XM_011538082.1:c.2591A>C | XP_011536384.1:p.His864Pro | |
| XM_011538080.2:c.2621A>C | XP_011536382.1:p.His874Pro | |
| XM_011538081.2:c.2618A>C | XP_011536383.1:p.His873Pro | |
| XM_011538082.2:c.2591A>C | XP_011536384.1:p.His864Pro | |
| XM_017019090.1:c.2618A>C | XP_016874579.1:p.His873Pro | |
| NM_015335.5:c.2621A>C MANE Select | NP_056150.1:p.His874Pro |