Linked Data
dbSNP Id:
rs749096659
ExAC:
2:216190044 T / C
gnomAD v2:
2-216190044-T-C
gnomAD v3:
2-215325321-T-C
gnomAD v4:
2-215325321-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215325321T>C , CM000664.2:g.215325321T>C | GRCh38 |
| NC_000002.11:g.216190044T>C , CM000664.1:g.216190044T>C | GRCh37 |
| NC_000002.10:g.215898289T>C | NCBI36 |
| NG_013002.1:g.18366T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236959.14:c.371T>C MANE Select | ENSP00000236959.9:p.Ile124Thr | |
| ENST00000236959.13:c.371T>C | ENSP00000236959.9:p.Ile124Thr | |
| ENST00000413174.1:c.194T>C | ENSP00000402393.1:p.Ile65Thr | |
| ENST00000427397.5:c.*421T>C | ENSP00000394317.1:n.*421T>C | |
| ENST00000435675.5:c.368T>C | ENSP00000415935.1:p.Ile123Thr | |
| ENST00000443953.5:c.*468T>C | ENSP00000406792.1:n.*468T>C | |
| ENST00000444305.5:c.*49T>C | ENSP00000388675.1:n.*49T>C | |
| ENST00000488712.5:n.583T>C | ||
| NM_004044.6:c.371T>C | NP_004035.2:p.Ile124Thr | |
| XM_017004187.2:c.371T>C | XP_016859676.1:p.Ile124Thr | |
| XM_024452919.1:c.194T>C | XP_024308687.1:p.Ile65Thr | |
| NM_004044.7:c.371T>C MANE Select | NP_004035.2:p.Ile124Thr |