Linked Data
dbSNP Id:
rs1554034853
ExAC:
5:13753494 T / C
gnomAD v2:
5-13753494-T-C
gnomAD v4:
5-13753385-T-C
COSMIC:
COSM3381095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753385T>C , CM000667.2:g.13753385T>C | GRCh38 |
| NC_000005.9:g.13753494T>C , CM000667.1:g.13753494T>C | GRCh37 |
| NC_000005.8:g.13806494T>C | NCBI36 |
| NG_013081.1:g.196096A>G | |
| NG_013081.2:g.196096A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10720A>G MANE Select | ENSP00000265104.4:p.Ser3574Gly | |
| ENST00000681290.1:c.10675A>G | ENSP00000505288.1:p.Ser3559Gly | |
| ENST00000265104.4:c.10720A>G | ENSP00000265104.4:p.Ser3574Gly | |
| NM_001369.2:c.10720A>G | NP_001360.1:p.Ser3574Gly | |
| XM_005248262.2:c.10675A>G | XP_005248319.1:p.Ser3559Gly | |
| XM_005248262.3:c.10828A>G | XP_005248319.2:p.Ser3610Gly | |
| XM_017009177.1:c.10828A>G | XP_016864666.1:p.Ser3610Gly | |
| XM_017009178.1:c.9733A>G | XP_016864667.1:p.Ser3245Gly | |
| XM_017009179.2:c.9733A>G | XP_016864668.1:p.Ser3245Gly | |
| XM_017009180.1:c.10828A>G | XP_016864669.1:p.Ser3610Gly | |
| XM_017009181.1:c.10828A>G | XP_016864670.1:p.Ser3610Gly | |
| XM_017009182.1:c.10828A>G | XP_016864671.1:p.Ser3610Gly | |
| XM_017009185.1:c.5917A>G | XP_016864674.1:p.Ser1973Gly | |
| XM_017009186.1:c.5470A>G | XP_016864675.1:p.Ser1824Gly | |
| XM_017009188.1:c.4807A>G | XP_016864677.1:p.Ser1603Gly | |
| XM_024454388.1:c.9733A>G | XP_024310156.1:p.Ser3245Gly | |
| XM_024454389.1:c.9322A>G | XP_024310157.1:p.Ser3108Gly | |
| NM_001369.3:c.10720A>G MANE Select | NP_001360.1:p.Ser3574Gly |