Linked Data
dbSNP Id:
rs1438565703
gnomAD v2:
2-25965451-C-G
gnomAD v3:
2-25742582-C-G
gnomAD v4:
2-25742582-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742582C>G , CM000664.2:g.25742582C>G | GRCh38 |
| NC_000002.11:g.25965451C>G , CM000664.1:g.25965451C>G | GRCh37 |
| NC_000002.10:g.25818955C>G | NCBI36 |
| NG_052995.1:g.140935G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.3752G>C | ENSP00000337250.5:p.Arg1251Thr | |
| ENST00000435504.9:c.3755G>C MANE Select | ENSP00000391447.3:p.Arg1252Thr | |
| ENST00000336112.8:c.3671G>C | ENSP00000337250.4:p.Arg1224Thr | |
| ENST00000404843.5:c.2204G>C | ENSP00000383920.1:p.Arg735Thr | |
| ENST00000435504.8:c.3755G>C | ENSP00000391447.3:p.Arg1252Thr | |
| NM_018263.4:c.3755G>C | NP_060733.4:p.Arg1252Thr | |
| XM_006712039.2:c.3389G>C | XP_006712102.1:p.Arg1130Thr | |
| XM_006712040.1:c.2975G>C | XP_006712103.1:p.Arg992Thr | |
| XM_011532950.1:c.3752G>C | XP_011531252.1:p.Arg1251Thr | |
| XM_011532951.1:c.3581G>C | XP_011531253.1:p.Arg1194Thr | |
| NM_018263.5:c.3755G>C | NP_060733.4:p.Arg1252Thr | |
| XM_006712039.3:c.3389G>C | XP_006712102.1:p.Arg1130Thr | |
| XM_006712040.2:c.2975G>C | XP_006712103.1:p.Arg992Thr | |
| XM_011532950.3:c.3752G>C | XP_011531252.1:p.Arg1251Thr | |
| XM_011532951.2:c.3581G>C | XP_011531253.1:p.Arg1194Thr | |
| XM_017004430.1:c.2975G>C | XP_016859919.1:p.Arg992Thr | |
| XM_024452974.1:c.3935G>C | XP_024308742.1:p.Arg1312Thr | |
| NM_001369346.1:c.3581G>C | NP_001356275.1:p.Arg1194Thr | |
| NM_001369347.1:c.2975G>C | NP_001356276.1:p.Arg992Thr | |
| NM_018263.6:c.3755G>C MANE Select | NP_060733.4:p.Arg1252Thr |