Linked Data
dbSNP Id:
rs777771033
ExAC:
1:17312768 C / A
gnomAD v2:
1-17312768-C-A
gnomAD v4:
1-16986273-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986273C>A , CM000663.2:g.16986273C>A | GRCh38 |
| NC_000001.10:g.17312768C>A , CM000663.1:g.17312768C>A | GRCh37 |
| NC_000001.9:g.17185355C>A | NCBI36 |
| NG_009054.1:g.30656G>T | |
| NG_029688.1:g.314G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.3491G>T MANE Select | ENSP00000327214.8:p.Arg1164Leu | |
| ENST00000326735.12:c.3491G>T | ENSP00000327214.8:p.Arg1164Leu | |
| ENST00000341676.9:c.3189G>T | ENSP00000341115.5:p.Thr1063= | |
| ENST00000452699.5:c.3476G>T | ENSP00000413307.1:p.Arg1159Leu | |
| ENST00000466561.1:n.1537G>T | ||
| ENST00000502418.1:c.909G>T | ENSP00000423065.1:p.Thr303= | |
| NM_001141973.2:c.3476G>T | NP_001135445.1:p.Arg1159Leu | |
| NM_001141974.2:c.3189G>T | NP_001135446.1:p.Thr1063= | |
| NM_022089.3:c.3491G>T | NP_071372.1:p.Arg1164Leu | |
| XM_005245809.1:c.3321G>T | XP_005245866.1:p.Thr1107= | |
| XM_005245810.1:c.3318G>T | XP_005245867.1:p.Thr1106= | |
| XM_005245811.1:c.3306G>T | XP_005245868.1:p.Thr1102= | |
| XM_005245812.1:c.3294G>T | XP_005245869.1:p.Thr1098= | |
| XM_005245813.1:c.3261G>T | XP_005245870.1:p.Thr1087= | |
| XM_005245815.1:c.3204G>T | XP_005245872.1:p.Thr1068= | |
| XM_006710512.1:c.3303G>T | XP_006710575.1:p.Thr1101= | |
| XM_006710513.1:c.3279G>T | XP_006710576.1:p.Thr1093= | |
| XM_011541128.1:c.3306G>T | XP_011539430.1:p.Thr1102= | |
| XM_011541129.1:c.3114G>T | XP_011539431.1:p.Thr1038= | |
| XM_017000844.1:c.3476G>T | XP_016856333.1:p.Arg1159Leu | |
| XM_017000845.1:c.3473G>T | XP_016856334.1:p.Arg1158Leu | |
| XM_017000846.1:c.3449G>T | XP_016856335.1:p.Arg1150Leu | |
| XM_017000847.1:c.3446G>T | XP_016856336.1:p.Arg1149Leu | |
| XM_017000848.1:c.3374G>T | XP_016856337.1:p.Arg1125Leu | |
| XM_017000849.1:c.3359G>T | XP_016856338.1:p.Arg1120Leu | |
| XM_017000850.1:c.3284G>T | XP_016856339.1:p.Arg1095Leu | |
| NM_022089.4:c.3491G>T MANE Select | NP_071372.1:p.Arg1164Leu | |
| NM_001141973.3:c.3476G>T | NP_001135445.1:p.Arg1159Leu | |
| NM_001141974.3:c.3189G>T | NP_001135446.1:p.Thr1063= |