MyVariant.info:
GRCh37
chr18:g.74700881A>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.76988925A>G , CM000680.2:g.76988925A>G | GRCh38 |
| NC_000018.9:g.74700881A>G , CM000680.1:g.74700881A>G | GRCh37 |
| NC_000018.8:g.72829869A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355994.7:c.682-13T>C MANE Select | ENSP00000348273.2:n.682-13T>C | |
| ENST00000354542.4:c.178-8454T>C | ENSP00000346545.4:n.178-8454T>C | |
| ENST00000355994.6:c.682-13T>C | ENSP00000348273.2:n.682-13T>C | |
| ENST00000359645.7:c.361-13T>C | ENSP00000352667.3:n.361-13T>C | |
| ENST00000382582.7:c.361-13T>C | ENSP00000372025.3:n.361-13T>C | |
| ENST00000397865.9:c.283-13T>C | ENSP00000380963.5:n.283-13T>C | |
| ENST00000397866.8:c.283-13T>C | ENSP00000380964.4:n.283-13T>C | |
| ENST00000397868.6:n.330-13T>C | ||
| ENST00000397869.7:c.283-13T>C | ENSP00000380967.3:n.283-13T>C | |
| ENST00000397875.7:c.300T>C | ENSP00000380973.3:p.Ser100= | |
| ENST00000447114.5:c.115-13T>C | ENSP00000405882.1:n.115-13T>C | |
| ENST00000459948.1:c.*74T>C | ENSP00000435322.1:n.*74T>C | |
| ENST00000467108.1:n.333-13T>C | ||
| ENST00000473302.5:c.*46T>C | ENSP00000432988.1:n.*46T>C | |
| ENST00000483025.5:c.*170-13T>C | ENSP00000442393.1:n.*170-13T>C | |
| ENST00000484548.6:n.317-13T>C | ||
| ENST00000493623.5:c.*84T>C | ENSP00000436951.1:n.*84T>C | |
| ENST00000526111.5:c.217-13T>C | ENSP00000435641.1:n.217-13T>C | |
| ENST00000527041.1:c.227+1086T>C | ENSP00000435243.1:n.227+1086T>C | |
| ENST00000527975.5:c.*32-13T>C | ENSP00000431267.1:n.*32-13T>C | |
| ENST00000528160.1:c.96-4124T>C | ENSP00000436830.1:n.96-4124T>C | |
| ENST00000531144.5:c.*21-13T>C | ENSP00000431335.1:n.*21-13T>C | |
| ENST00000533278.5:c.*21-13T>C | ENSP00000434011.1:n.*21-13T>C | |
| ENST00000577755.5:c.170-405T>C | ||
| ENST00000578193.5:c.283-13T>C | ENSP00000463403.1:n.283-13T>C | |
| ENST00000578873.5:c.361-13T>C | ENSP00000463137.1:n.361-13T>C | |
| ENST00000579129.5:c.682-13T>C | ENSP00000463780.1:n.682-13T>C | |
| ENST00000580402.5:c.682-13T>C | ENSP00000462223.1:n.682-13T>C | |
| ENST00000580473.5:n.431-13T>C | ||
| ENST00000581179.5:n.408-13T>C | ||
| ENST00000582282.5:n.326-13T>C | ||
| ENST00000583118.5:n.158-13T>C | ||
| ENST00000583474.5:c.*21-13T>C | ENSP00000462758.1:n.*21-13T>C | |
| ENST00000585201.5:c.69-13T>C | ||
| ENST00000585216.5:n.330-13T>C | ||
| NM_001025081.1:c.361-13T>C | NP_001020252.1:n.361-13T>C | |
| NM_001025090.1:c.283-13T>C | NP_001020261.1:n.283-13T>C | |
| NM_001025092.1:c.283-13T>C | NP_001020263.1:n.283-13T>C | |
| NM_001025101.1:c.682-13T>C | NP_001020272.1:n.682-13T>C | |
| NM_002385.2:c.361-13T>C | NP_002376.1:n.361-13T>C | |
| XM_011526008.1:c.682-13T>C | XP_011524310.1:n.682-13T>C | |
| XM_011526009.1:c.682-13T>C | XP_011524311.1:n.682-13T>C | |
| XM_011526010.1:c.682-13T>C | XP_011524312.1:n.682-13T>C | |
| XM_011526011.1:c.682-13T>C | XP_011524313.1:n.682-13T>C | |
| XR_245460.2:n.941-13T>C | ||
| XR_245461.2:n.941-13T>C | ||
| XM_024451185.1:c.760-13T>C | XP_024306953.1:n.760-13T>C | |
| XM_024451186.1:c.760-13T>C | XP_024306954.1:n.760-13T>C | |
| XM_024451187.1:c.760-13T>C | XP_024306955.1:n.760-13T>C | |
| XM_024451188.1:c.361-13T>C | XP_024306956.1:n.361-13T>C | |
| XR_001753201.1:n.614-13T>C | ||
| XR_001753202.1:n.614-13T>C | ||
| NM_001025101.2:c.682-13T>C MANE Select | NP_001020272.1:n.682-13T>C | |
| NM_001025081.2:c.361-13T>C | NP_001020252.1:n.361-13T>C | |
| NM_001025090.2:c.283-13T>C | NP_001020261.1:n.283-13T>C | |
| NM_001025092.2:c.283-13T>C | NP_001020263.1:n.283-13T>C | |
| NM_002385.3:c.361-13T>C | NP_002376.1:n.361-13T>C |