Linked Data
dbSNP Id:
rs748501399
ExAC:
4:89052334 C / G
gnomAD v2:
4-89052334-C-G
gnomAD v4:
4-88131182-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88131182C>G , CM000666.2:g.88131182C>G | GRCh38 |
| NC_000004.11:g.89052334C>G , CM000666.1:g.89052334C>G | GRCh37 |
| NC_000004.10:g.89271358C>G | NCBI36 |
| NG_032067.2:g.105141G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237612.8:c.410G>C MANE Select | ENSP00000237612.3:p.Arg137Thr | |
| ENST00000650821.1:c.410G>C | ENSP00000498246.1:p.Arg137Thr | |
| ENST00000237612.7:c.410G>C | ENSP00000237612.3:p.Arg137Thr | |
| ENST00000515655.5:c.410G>C | ENSP00000426917.1:p.Arg137Thr | |
| NM_001257386.1:c.410G>C | NP_001244315.1:p.Arg137Thr | |
| NM_004827.2:c.410G>C | NP_004818.2:p.Arg137Thr | |
| XM_005263354.2:c.410G>C | XP_005263411.1:p.Arg137Thr | |
| XM_005263355.2:c.410G>C | XP_005263412.1:p.Arg137Thr | |
| XM_005263356.2:c.410G>C | XP_005263413.1:p.Arg137Thr | |
| XM_011532420.1:c.410G>C | XP_011530722.1:p.Arg137Thr | |
| NM_001257386.2:c.410G>C | NP_001244315.1:p.Arg137Thr | |
| NM_001348985.1:c.410G>C | NP_001335914.1:p.Arg137Thr | |
| NM_001348986.1:c.410G>C | NP_001335915.1:p.Arg137Thr | |
| NM_001348987.1:c.410G>C | NP_001335916.1:p.Arg137Thr | |
| NM_001348988.1:c.410G>C | NP_001335917.1:p.Arg137Thr | |
| NM_001348989.1:c.410G>C | NP_001335918.1:p.Arg137Thr | |
| XM_005263355.4:c.410G>C | XP_005263412.1:p.Arg137Thr | |
| XM_011532420.3:c.410G>C | XP_011530722.1:p.Arg137Thr | |
| XM_017008852.2:c.410G>C | XP_016864341.1:p.Arg137Thr | |
| NM_004827.3:c.410G>C MANE Select | NP_004818.2:p.Arg137Thr | |
| NM_001348989.2:c.410G>C | NP_001335918.1:p.Arg137Thr |