Linked Data
ClinVar Variation Id:
141436
ClinVar RCV Id:
RCV000129949
RCV000198030
RCV000283075
RCV000515282
RCV000656753
RCV002267871
RCV003534376
dbSNP Id:
rs147287751
ExAC:
5:112179680 A / G
gnomAD v2:
5-112179680-A-G
gnomAD v3:
5-112843983-A-G
gnomAD v4:
5-112843983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843983A>G , CM000667.2:g.112843983A>G | GRCh38 |
| NC_000005.9:g.112179680A>G , CM000667.1:g.112179680A>G | GRCh37 |
| NC_000005.8:g.112207579A>G | NCBI36 |
| NG_008481.4:g.156463A>G , LRG_130:g.156463A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8443A>G | ENSP00000473355.2:p.Ser2815Gly | |
| ENST00000505350.2:c.*8395A>G | ENSP00000481752.1:n.*8395A>G | |
| ENST00000507379.6:c.8335A>G | ENSP00000423224.2:p.Ser2779Gly | |
| ENST00000509732.6:c.8389A>G | ENSP00000426541.2:p.Ser2797Gly | |
| ENST00000512211.7:c.8389A>G | ENSP00000423828.3:p.Ser2797Gly | |
| ENST00000257430.9:c.8389A>G MANE Select | ENSP00000257430.4:p.Ser2797Gly | |
| ENST00000257430.8:c.8389A>G | ENSP00000257430.4:p.Ser2797Gly | |
| ENST00000508376.6:c.8389A>G | ENSP00000427089.2:p.Ser2797Gly | |
| ENST00000520401.1:c.231-12666A>G | ||
| NM_000038.5:c.8389A>G | NP_000029.2:p.Ser2797Gly | |
| NM_001127510.2:c.8389A>G | NP_001120982.1:p.Ser2797Gly | |
| NM_001127511.2:c.8335A>G | NP_001120983.2:p.Ser2779Gly | |
| NM_001354895.1:c.8389A>G | NP_001341824.1:p.Ser2797Gly | |
| NM_001354896.1:c.8443A>G | NP_001341825.1:p.Ser2815Gly | |
| NM_001354897.1:c.8419A>G | NP_001341826.1:p.Ser2807Gly | |
| NM_001354898.1:c.8314A>G | NP_001341827.1:p.Ser2772Gly | |
| NM_001354899.1:c.8305A>G | NP_001341828.1:p.Ser2769Gly | |
| NM_001354900.1:c.8266A>G | NP_001341829.1:p.Ser2756Gly | |
| NM_001354901.1:c.8212A>G | NP_001341830.1:p.Ser2738Gly | |
| NM_001354902.1:c.8116A>G | NP_001341831.1:p.Ser2706Gly | |
| NM_001354903.1:c.8086A>G | NP_001341832.1:p.Ser2696Gly | |
| NM_001354904.1:c.8011A>G | NP_001341833.1:p.Ser2671Gly | |
| NM_001354905.1:c.7909A>G | NP_001341834.1:p.Ser2637Gly | |
| NM_001354906.1:c.7540A>G | NP_001341835.1:p.Ser2514Gly | |
| NM_000038.6:c.8389A>G MANE Select | NP_000029.2:p.Ser2797Gly | |
| NM_001127510.3:c.8389A>G | NP_001120982.1:p.Ser2797Gly | |
| NM_001127511.3:c.8335A>G | NP_001120983.2:p.Ser2779Gly | |
| NM_001354895.2:c.8389A>G | NP_001341824.1:p.Ser2797Gly | |
| NM_001354896.2:c.8443A>G | NP_001341825.1:p.Ser2815Gly | |
| NM_001354897.2:c.8419A>G | NP_001341826.1:p.Ser2807Gly | |
| NM_001354898.2:c.8314A>G | NP_001341827.1:p.Ser2772Gly | |
| NM_001354899.2:c.8305A>G | NP_001341828.1:p.Ser2769Gly | |
| NM_001354900.2:c.8266A>G | NP_001341829.1:p.Ser2756Gly | |
| NM_001354901.2:c.8212A>G | NP_001341830.1:p.Ser2738Gly | |
| NM_001354902.2:c.8116A>G | NP_001341831.1:p.Ser2706Gly | |
| NM_001354903.2:c.8086A>G | NP_001341832.1:p.Ser2696Gly | |
| NM_001354904.2:c.8011A>G | NP_001341833.1:p.Ser2671Gly | |
| NM_001354905.2:c.7909A>G | NP_001341834.1:p.Ser2637Gly | |
| NM_001354906.2:c.7540A>G | NP_001341835.1:p.Ser2514Gly |