Linked Data
ClinVar Variation Id:
288516
dbSNP Id:
rs140441798
ExAC:
2:238249366 T / G
gnomAD v2:
2-238249366-T-G
gnomAD v3:
2-237340723-T-G
gnomAD v4:
2-237340723-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340723T>G , CM000664.2:g.237340723T>G | GRCh38 |
| NC_000002.11:g.238249366T>G , CM000664.1:g.238249366T>G | GRCh37 |
| NC_000002.10:g.237914105T>G | NCBI36 |
| NG_008676.1:g.78485A>C , LRG_473:g.78485A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.838A>C | ||
| ENST00000353578.9:c.7575A>C | ENSP00000315873.4:p.Pro2525= | |
| ENST00000682957.1:c.196A>C | ||
| ENST00000684508.1:n.460A>C | ||
| ENST00000295550.9:c.8193A>C MANE Select | ENSP00000295550.4:p.Pro2731= | |
| ENST00000295550.8:c.8193A>C | ENSP00000295550.4:p.Pro2731= | |
| ENST00000347401.7:c.6369A>C | ENSP00000315609.4:p.Pro2123= | |
| ENST00000353578.8:c.7575A>C | ENSP00000315873.4:p.Pro2525= | |
| ENST00000409809.5:c.7575A>C | ENSP00000386844.1:p.Pro2525= | |
| ENST00000472056.5:c.6372A>C | ENSP00000418285.1:p.Pro2124= | |
| ENST00000491769.1:n.4635A>C | ||
| NM_004369.3:c.8193A>C , LRG_473t1:c.8193A>C | NP_004360.2:p.Pro2731= | |
| NM_057166.4:c.6372A>C | NP_476507.3:p.Pro2124= | |
| NM_057167.3:c.7575A>C | NP_476508.2:p.Pro2525= | |
| XM_005246065.1:c.7593A>C | XP_005246122.1:p.Pro2531= | |
| XM_005246066.1:c.6972A>C | XP_005246123.1:p.Pro2324= | |
| XM_006712253.1:c.7692A>C | XP_006712316.1:p.Pro2564= | |
| XM_011510574.1:c.8190A>C | XP_011508876.1:p.Pro2730= | |
| XM_011510575.1:c.5787A>C | XP_011508877.1:p.Pro1929= | |
| XM_017003304.1:c.5787A>C | XP_016858793.1:p.Pro1929= | |
| XM_024452684.1:c.6972A>C | XP_024308452.1:p.Pro2324= | |
| NM_004369.4:c.8193A>C MANE Select | NP_004360.2:p.Pro2731= | |
| NM_057166.5:c.6372A>C | NP_476507.3:p.Pro2124= | |
| NM_057167.4:c.7575A>C | NP_476508.2:p.Pro2525= |