Linked Data
dbSNP Id:
rs144068763
ExAC:
9:138683695 G / T
gnomAD v2:
9-138683695-G-T
gnomAD v3:
9-135791849-G-T
gnomAD v4:
9-135791849-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135791849G>T , CM000671.2:g.135791849G>T | GRCh38 |
| NC_000009.11:g.138683695G>T , CM000671.1:g.138683695G>T | GRCh37 |
| NC_000009.10:g.137823516G>T | NCBI36 |
| NG_033070.1:g.94665G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.3555G>T MANE Select | ENSP00000360822.2:p.Pro1185= | |
| ENST00000674572.1:c.3459G>T | ENSP00000501742.1:p.Pro1153= | |
| ENST00000675090.1:c.3303G>T | ENSP00000501833.1:p.Pro1101= | |
| ENST00000675399.1:c.3366G>T | ENSP00000501932.1:p.Pro1122= | |
| ENST00000676421.1:c.3375G>T | ENSP00000502322.1:p.Pro1125= | |
| ENST00000263604.5:c.3519G>T | ENSP00000263604.4:p.Pro1173= | |
| ENST00000371757.6:c.3555G>T | ENSP00000360822.2:p.Pro1185= | |
| ENST00000460750.5:c.*3228G>T | ENSP00000418777.1:n.*3228G>T | |
| ENST00000475008.1:n.2861G>T | ||
| ENST00000486577.6:c.3501G>T | ENSP00000417578.3:p.Pro1167= | |
| ENST00000487664.5:c.3618G>T | ENSP00000417851.2:p.Pro1206= | |
| ENST00000488444.6:c.3540G>T | ENSP00000419007.3:p.Pro1180= | |
| ENST00000490355.6:c.3555G>T | ENSP00000418003.3:p.Pro1185= | |
| ENST00000491806.6:c.3498G>T | ENSP00000419086.3:p.Pro1166= | |
| ENST00000628528.2:c.3483G>T | ENSP00000486374.1:p.Pro1161= | |
| ENST00000630792.2:c.3453G>T | ENSP00000486486.1:p.Pro1151= | |
| ENST00000631073.2:c.3561G>T | ENSP00000486130.1:p.Pro1187= | |
| NM_001272003.1:c.3483G>T | NP_001258932.1:p.Pro1161= | |
| NM_020822.2:c.3555G>T | NP_065873.2:p.Pro1185= | |
| XM_011518877.1:c.3753G>T | XP_011517179.1:p.Pro1251= | |
| XM_011518878.1:c.3699G>T | XP_011517180.1:p.Pro1233= | |
| XM_011518879.1:c.3690G>T | XP_011517181.1:p.Pro1230= | |
| XM_011518880.1:c.3519G>T | XP_011517182.1:p.Pro1173= | |
| XM_011518881.1:c.3108G>T | XP_011517183.1:p.Pro1036= | |
| XM_011518877.3:c.3753G>T | XP_011517179.1:p.Pro1251= | |
| XM_011518878.3:c.3699G>T | XP_011517180.1:p.Pro1233= | |
| XM_011518879.3:c.3690G>T | XP_011517181.1:p.Pro1230= | |
| XM_011518881.3:c.3108G>T | XP_011517183.1:p.Pro1036= | |
| XM_017014931.1:c.3552G>T | XP_016870420.1:p.Pro1184= | |
| XM_017014932.1:c.3375G>T | XP_016870421.1:p.Pro1125= | |
| XM_017014933.1:c.3108G>T | XP_016870422.1:p.Pro1036= | |
| XM_024447617.1:c.3108G>T | XP_024303385.1:p.Pro1036= | |
| XM_024447618.1:c.3108G>T | XP_024303386.1:p.Pro1036= | |
| NM_020822.3:c.3555G>T MANE Select | NP_065873.2:p.Pro1185= | |
| NM_001272003.2:c.3483G>T | NP_001258932.1:p.Pro1161= |