Linked Data
ClinVar Variation Id:
354515
ClinVar RCV Id:
RCV002058541
dbSNP Id:
rs778801311
ExAC:
5:86649025 T / C
gnomAD v2:
5-86649025-T-C
gnomAD v3:
5-87353208-T-C
gnomAD v4:
5-87353208-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87353208T>C , CM000667.2:g.87353208T>C | GRCh38 |
| NC_000005.9:g.86649025T>C , CM000667.1:g.86649025T>C | GRCh37 |
| NC_000005.8:g.86684781T>C | NCBI36 |
| NG_011650.1:g.89875T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.1305T>C (RASA1) MANE Select | ENSP00000274376.6:p.Tyr435= | |
| ENST00000645953.1:c.*91-34311A>G (CCNH) | ENSP00000494460.1:n.*91-34311A>G | |
| ENST00000274376.10:c.1305T>C (RASA1) | ENSP00000274376.6:p.Tyr435= | |
| ENST00000456692.6:c.774T>C (RASA1) | ENSP00000411221.2:p.Tyr258= | |
| ENST00000506290.1:c.807T>C (RASA1) | ENSP00000420905.1:p.Tyr269= | |
| ENST00000509953.1:n.408T>C (RASA1) | ||
| ENST00000512763.5:c.804T>C (RASA1) | ENSP00000422008.1:p.Tyr268= | |
| ENST00000515800.6:c.1305T>C (RASA1) | ENSP00000423395.2:p.Tyr435= | |
| NM_002890.2:c.1305T>C (RASA1) | NP_002881.1:p.Tyr435= | |
| NM_022650.2:c.774T>C (RASA1) | NP_072179.1:p.Tyr258= | |
| XM_011543525.1:c.1305T>C (RASA1) | XP_011541827.1:p.Tyr435= | |
| XM_011543526.1:c.1305T>C (RASA1) | XP_011541828.1:p.Tyr435= | |
| XM_011543527.1:c.1305T>C (RASA1) | XP_011541829.1:p.Tyr435= | |
| NM_001364075.1:c.934-40413A>G (CCNH) | NP_001351004.1:n.934-40413A>G | |
| NR_157068.1:n.1447+39562A>G (CCNH) | ||
| NR_157069.1:n.1040+39562A>G (CCNH) | ||
| NR_157070.1:n.1204+39562A>G (CCNH) | ||
| XM_011543525.2:c.1305T>C (RASA1) | XP_011541827.1:p.Tyr435= | |
| XM_011543527.3:c.1305T>C (RASA1) | XP_011541829.1:p.Tyr435= | |
| NM_001364075.2:c.934-40413A>G (CCNH) | NP_001351004.1:n.934-40413A>G | |
| NM_002890.3:c.1305T>C (RASA1) MANE Select | NP_002881.1:p.Tyr435= | |
| NR_157068.2:n.1447+39562A>G (CCNH) | ||
| NR_157069.2:n.1040+39562A>G (CCNH) | ||
| NR_157070.2:n.1204+39562A>G (CCNH) | ||
| NM_022650.3:c.774T>C (RASA1) | NP_072179.1:p.Tyr258= |