Linked Data
dbSNP Id:
rs1014731194
gnomAD v2:
5-156668451-T-C
gnomAD v3:
5-157241441-T-C
gnomAD v4:
5-157241441-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157241441T>C , CM000667.2:g.157241441T>C | GRCh38 |
| NC_000005.9:g.156668451T>C , CM000667.1:g.156668451T>C | GRCh37 |
| NC_000005.8:g.156601029T>C | NCBI36 |
| NG_016276.1:g.65545T>C , LRG_189:g.65545T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.852-205T>C | ENSP00000513001.1:n.852-205T>C | |
| ENST00000422843.8:c.986-205T>C MANE Select | ENSP00000398655.4:n.986-205T>C | |
| ENST00000422843.7:c.986-205T>C | ENSP00000398655.3:n.986-205T>C | |
| ENST00000519402.5:n.2366T>C | ||
| ENST00000520173.1:n.104-205T>C | ||
| NM_005546.3:c.986-205T>C , LRG_189t1:c.986-205T>C | NP_005537.3:n.986-205T>C | |
| XM_017009443.1:c.611-205T>C | XP_016864932.1:n.611-205T>C | |
| NM_005546.4:c.986-205T>C MANE Select | NP_005537.3:n.986-205T>C |