Linked Data
ClinVar Variation Id:
210281
dbSNP Id:
rs111368751
ExAC:
6:157502276 C / T
gnomAD v2:
6-157502276-C-T
gnomAD v3:
6-157181142-C-T
gnomAD v4:
6-157181142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157181142C>T , CM000668.2:g.157181142C>T | GRCh38 |
| NC_000006.11:g.157502276C>T , CM000668.1:g.157502276C>T | GRCh37 |
| NC_000006.10:g.157543968C>T | NCBI36 |
| NG_032093.1:g.408213C>T | |
| NG_032093.2:g.408213C>T | |
| NG_066624.1:g.410117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3519C>T | ENSP00000055163.8:p.Leu1173= | |
| ENST00000414678.8:c.3588C>T | ENSP00000412835.3:p.Leu1196= | |
| ENST00000637015.2:c.3807C>T | ENSP00000489729.2:p.Leu1269= | |
| ENST00000319584.11:c.1692C>T | ENSP00000313006.7:p.Leu564= | |
| ENST00000346085.10:c.3558C>T | ENSP00000344546.5:p.Leu1186= | |
| ENST00000350026.10:c.3270C>T | ENSP00000055163.7:p.Leu1090= | |
| ENST00000414678.7:c.1836C>T | ENSP00000412835.2:p.Leu612= | |
| ENST00000635849.1:c.999C>T | ENSP00000490948.1:p.Leu333= | |
| ENST00000635957.1:c.633C>T | ENSP00000490385.1:p.Leu211= | |
| ENST00000636930.2:c.3678C>T MANE Select | ENSP00000490491.2:p.Leu1226= | |
| ENST00000636940.1:n.1675C>T | ||
| ENST00000637015.1:c.1046C>T | ||
| ENST00000637568.1:c.960C>T | ||
| ENST00000637741.1:n.344C>T | ||
| ENST00000637810.1:c.1020C>T | ENSP00000489636.1:p.Leu340= | |
| ENST00000637904.1:c.1179C>T | ENSP00000490550.1:p.Leu393= | |
| ENST00000647938.1:c.3309C>T | ENSP00000498155.1:p.Leu1103= | |
| ENST00000319584.10:c.1695C>T | ENSP00000313006.6:p.Leu565= | |
| ENST00000346085.9:c.3309C>T | ENSP00000344546.4:p.Leu1103= | |
| ENST00000350026.9:c.3270C>T | ENSP00000055163.7:p.Leu1090= | |
| ENST00000400790.3:c.471C>T | ENSP00000383596.3:p.Leu157= | |
| ENST00000414678.6:c.1836C>T | ENSP00000412835.2:p.Leu612= | |
| ENST00000478761.3:c.880C>T | ||
| NM_017519.2:c.3270C>T | NP_059989.2:p.Leu1090= | |
| NM_020732.3:c.3309C>T | NP_065783.3:p.Leu1103= | |
| XM_005267069.3:c.3429C>T | XP_005267126.2:p.Leu1143= | |
| XM_011535984.1:c.2508C>T | XP_011534286.1:p.Leu836= | |
| XM_011535985.1:c.2328C>T | XP_011534287.1:p.Leu776= | |
| XM_011535986.1:c.2088C>T | XP_011534288.1:p.Leu696= | |
| XM_011535987.1:c.1707C>T | XP_011534289.1:p.Leu569= | |
| XM_011535988.1:c.570C>T | XP_011534290.1:p.Leu190= | |
| NM_001346813.1:c.3429C>T | NP_001333742.1:p.Leu1143= | |
| NM_001363725.1:c.1179C>T | NP_001350654.1:p.Leu393= | |
| XM_011535984.2:c.3639C>T | XP_011534286.2:p.Leu1213= | |
| XM_011535988.3:c.570C>T | XP_011534290.1:p.Leu190= | |
| XM_017011103.2:c.3540C>T | XP_016866592.1:p.Leu1180= | |
| XM_017011104.1:c.3510C>T | XP_016866593.1:p.Leu1170= | |
| XM_017011105.2:c.3480C>T | XP_016866594.1:p.Leu1160= | |
| XM_017011106.2:c.3351C>T | XP_016866595.1:p.Leu1117= | |
| XM_017011107.2:c.3330C>T | XP_016866596.1:p.Leu1110= | |
| XR_002956289.1:n.3722C>T | ||
| NM_001363725.2:c.1179C>T | NP_001350654.1:p.Leu393= | |
| NM_001371656.1:c.3558C>T | NP_001358585.1:p.Leu1186= | |
| NM_001374820.1:c.3558C>T | NP_001361749.1:p.Leu1186= | |
| NM_001374828.1:c.3678C>T MANE Select | NP_001361757.1:p.Leu1226= | |
| NM_017519.3:c.3519C>T | NP_059989.3:p.Leu1173= |