Linked Data
ClinVar Variation Id:
337269
dbSNP Id:
rs149603998
ExAC:
2:85781306 C / G
gnomAD v2:
2-85781306-C-G
gnomAD v3:
2-85554183-C-G
gnomAD v4:
2-85554183-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85554183C>G , CM000664.2:g.85554183C>G | GRCh38 |
| NC_000002.11:g.85781306C>G , CM000664.1:g.85781306C>G | GRCh37 |
| NC_000002.10:g.85634817C>G | NCBI36 |
| NG_011811.2:g.12352G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.4893G>C | ||
| ENST00000482662.2:n.2655G>C | ||
| ENST00000685865.1:n.1252G>C | ||
| ENST00000687250.1:n.952G>C | ||
| ENST00000687995.1:n.1201G>C | ||
| ENST00000688205.1:c.*442G>C | ENSP00000509673.1:n.*442G>C | |
| ENST00000688788.1:n.1129-686G>C | ||
| ENST00000689276.1:c.780G>C | ENSP00000510012.1:p.Val260= | |
| ENST00000689576.1:c.849G>C | ENSP00000508712.1:p.Val283= | |
| ENST00000690108.1:c.*505G>C | ENSP00000510617.1:n.*505G>C | |
| ENST00000690468.1:c.570G>C | ENSP00000509078.1:p.Val190= | |
| ENST00000690595.1:c.215-686G>C | ENSP00000508979.1:n.215-686G>C | |
| ENST00000691348.1:c.678G>C | ENSP00000509369.1:p.Val226= | |
| ENST00000691410.1:c.*426G>C | ENSP00000508479.1:n.*426G>C | |
| ENST00000693287.1:c.165G>C | ENSP00000510264.1:p.Val55= | |
| ENST00000693681.1:c.203-686G>C | ENSP00000510789.1:n.203-686G>C | |
| ENST00000233838.9:c.849G>C MANE Select | ENSP00000233838.3:p.Val283= | |
| ENST00000233838.8:c.849G>C | ENSP00000233838.3:p.Val283= | |
| ENST00000430215.7:c.678G>C | ENSP00000408045.3:p.Val226= | |
| ENST00000465637.5:n.178+4823G>C | ||
| ENST00000473665.1:n.342G>C | ||
| NM_000821.5:c.849G>C | NP_000812.2:p.Val283= | |
| NM_000821.6:c.849G>C | NP_000812.2:p.Val283= | |
| NM_001142269.2:c.678G>C | NP_001135741.1:p.Val226= | |
| NM_001142269.3:c.678G>C | NP_001135741.1:p.Val226= | |
| XM_005264259.3:c.849G>C | XP_005264316.1:p.Val283= | |
| XM_011532764.1:c.68-686G>C | XP_011531066.1:n.68-686G>C | |
| XM_011532765.1:c.68-686G>C | XP_011531067.1:n.68-686G>C | |
| XR_939677.1:n.914G>C | ||
| XM_005264259.5:c.849G>C | XP_005264316.1:p.Val283= | |
| XM_011532764.3:c.68-686G>C | XP_011531066.1:n.68-686G>C | |
| XM_011532765.3:c.68-686G>C | XP_011531067.1:n.68-686G>C | |
| XM_017003803.2:c.678G>C | XP_016859292.1:p.Val226= | |
| XR_001738703.2:n.914G>C | ||
| NM_000821.7:c.849G>C MANE Select | NP_000812.2:p.Val283= | |
| NM_001142269.4:c.678G>C | NP_001135741.1:p.Val226= |