Linked Data
ClinVar Variation Id:
197036
dbSNP Id:
rs375204972
ExAC:
8:61777944 T / C
gnomAD v2:
8-61777944-T-C
gnomAD v3:
8-60865385-T-C
gnomAD v4:
8-60865385-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865385T>C , CM000670.2:g.60865385T>C | GRCh38 |
| NC_000008.10:g.61777944T>C , CM000670.1:g.61777944T>C | GRCh37 |
| NC_000008.9:g.61940498T>C | NCBI36 |
| NG_007009.1:g.191606T>C , LRG_176:g.191606T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695850.1:n.1622T>C | ||
| ENST00000695852.1:n.553T>C | ||
| ENST00000695853.1:c.*1505T>C | ENSP00000512218.1:n.*1505T>C | |
| ENST00000423902.7:c.8446T>C MANE Select | ENSP00000392028.1:p.Leu2816= | |
| ENST00000423902.6:c.8446T>C | ENSP00000392028.1:p.Leu2816= | |
| ENST00000524602.5:c.2299T>C | ENSP00000437061.1:p.Leu767= | |
| ENST00000528280.1:n.492T>C | ||
| NM_001316690.1:c.2299T>C | NP_001303619.1:p.Leu767= | |
| NM_017780.3:c.8446T>C | NP_060250.2:p.Leu2816= | |
| XM_011517553.1:c.8536T>C | XP_011515855.1:p.Leu2846= | |
| XM_011517554.1:c.8536T>C | XP_011515856.1:p.Leu2846= | |
| XM_011517555.1:c.8533T>C | XP_011515857.1:p.Leu2845= | |
| XM_011517556.1:c.8314T>C | XP_011515858.1:p.Leu2772= | |
| XM_011517557.1:c.6523T>C | XP_011515859.1:p.Leu2175= | |
| XM_011517558.1:c.6073T>C | XP_011515860.1:p.Leu2025= | |
| XM_011517559.1:c.5281T>C | XP_011515861.1:p.Leu1761= | |
| XM_011517553.2:c.8536T>C | XP_011515855.1:p.Leu2846= | |
| XM_011517554.3:c.8536T>C | XP_011515856.1:p.Leu2846= | |
| XM_011517555.2:c.8533T>C | XP_011515857.1:p.Leu2845= | |
| XM_017013612.1:c.8536T>C | XP_016869101.1:p.Leu2846= | |
| XM_017013613.1:c.8443T>C | XP_016869102.1:p.Leu2815= | |
| NM_017780.4:c.8446T>C MANE Select | NP_060250.2:p.Leu2816= |